Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 1

Results: 55

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 304, doi. 10.1002/ajmg.a.62500
By:
- Bartlett, Essra;
- Archibald, Alison D.;
- Francis, David;
- Ling, Ling;
- Thomas, Rob;
- Chandler, Gabrielle;
- Ward, Lisa;
- O'Farrell, Gemma;
- Pandelache, Alison;
- Delatycki, Martin B.;
- Bennetts, Bruce H.;
- Ho, Gladys;
- Fisk, Katrina;
- Baker, Emma K.;
- Amor, David J.;
- Godler, David E.
Publication type:
Article
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 147, doi. 10.1002/ajmg.a.62507
By:
- Marco Hernández, Ana Victoria;
- Caro, Alfonso;
- Montoya Filardi, Alejandro;
- Tomás Vila, Miguel;
- Monfort, Sandra;
- Beseler Soto, Beatriz;
- Nieto‐Barceló, Juan José;
- Martínez, Francisco
Publication type:
Article
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 130, doi. 10.1002/ajmg.a.62504
By:
- Ho, Stephanie;
- Tsang, Mandy Ho‐Yin;
- Fung, Jasmine Lee‐Fong;
- Huang, Haibo;
- Chow, Chun‐Bong;
- Cheng, Shirley Sze‐Wing;
- Luk, Ho‐Ming;
- Chung, Brian Hon‐Yin;
- Lo, Ivan Fai‐Man
Publication type:
Article
GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 314, doi. 10.1002/ajmg.a.62503
By:
- Mathonnet, Alix;
- Cunat, Séverine;
- Allias, Fabienne;
- Caillot, Sandrine;
- Thonnon, Cyrielle;
- Till, Marianne;
- Attié‐Bitach, Tania;
- Touraine, Renaud;
- Meunier, Sandrine;
- Cartellier, Charline;
- Rossi, Massimiliano;
- Attia, Jocelyne;
- Putoux, Audrey
Publication type:
Article
Cover Image, Volume 188A, Number 1, January 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. i, doi. 10.1002/ajmg.a.62265
Publication type:
Article
Causes of death in patients with Down syndrome in 2014–2016: A population study in Japan.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 224, doi. 10.1002/ajmg.a.62526
By:
- Motegi, Narumi;
- Yamaoka, Yui;
- Moriichi, Akinori;
- Morisaki, Naho
Publication type:
Article
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A‐related pathologies.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 216, doi. 10.1002/ajmg.a.62525
By:
- Lessel, Davor;
- Rading, Katrin;
- Campbell, Susan E.;
- Thiele, Holger;
- Altmüller, Janine;
- Gordon, Leslie B.;
- Kubisch, Christian
Publication type:
Article
Novel DIP2C gene splicing variant in an individual with focal infantile epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 210, doi. 10.1002/ajmg.a.62524
By:
- Yang, Le;
- Zhao, Siyu;
- Ma, Nan;
- Liu, Liang;
- Li, Dongjing;
- Li, Xia;
- Wang, Zhijing;
- Song, Xixiao;
- Wang, Yan;
- Wang, Dong
Publication type:
Article
The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 364, doi. 10.1002/ajmg.a.62523
By:
- Weinstock, Nadav I.;
- Sadler, Laurie
Publication type:
Article
Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 199, doi. 10.1002/ajmg.a.62522
By:
- Farhan, Ahmed;
- Yuan, Frank;
- Partan, Elizabeth;
- Weiss, Clifford R.
Publication type:
Article
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 357, doi. 10.1002/ajmg.a.62520
By:
- Werner, Kelly M.;
- Cox, Allison J.;
- Qian, Emily;
- Jain, Preti;
- Ji, Weizhen;
- Tikhonova, Irina;
- Castaldi, Christopher;
- Bilguvar, Kaya;
- Knight, James;
- Ferdinandusse, Sacha;
- Fawaz, Rima;
- Jiang, Yong‐Hui;
- Gallagher, Patrick G.;
- Bizzarro, Matthew;
- Gruen, Jeffrey R.;
- Bale, Allen;
- Zhang, Hui
Publication type:
Article
A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 369, doi. 10.1002/ajmg.a.62519
By:
- Ruhrman‐Shahar, Noa;
- Assia Batzir, Nurit;
- Lidzbarsky, Gabriel Arie;
- Bazak, Lily;
- Magal, Nurit;
- Basel‐Salmon, Lina
Publication type:
Article
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 187, doi. 10.1002/ajmg.a.62518
By:
- Amlie‐Wolf, Louise;
- Bardakjian, Tanya;
- Kopinsky, Sarina M.;
- Reis, Linda M.;
- Semina, Elena V.;
- Schneider, Adele
Publication type:
Article
Parental perceptions of genetic testing for children with autism spectrum disorders.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 178, doi. 10.1002/ajmg.a.62517
By:
- Lucas, Heather M.;
- Lewis, Andrea M.;
- Lupo, Philip J.;
- Schaaf, Christian P.
Publication type:
Article
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 350, doi. 10.1002/ajmg.a.62516
By:
- Minatogawa, Mari;
- Miyake, Noriko;
- Tsukahara, Yoshinori;
- Tanabe, Yuko;
- Uchiyama, Takamichi;
- Matsumoto, Naomichi;
- Kosho, Tomoki
Publication type:
Article
Robin sequence without cleft palate: Genetic diagnoses and management implications.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 160, doi. 10.1002/ajmg.a.62515
By:
- Weaver, K. Nicole;
- Sullivan, Bonnie R.;
- Balow, Stephanie A.;
- Hopkin, Sara;
- Chini, Barbara A.;
- Pan, Brian S.;
- Stottmann, Rolf W.;
- Bender, Patricia L.;
- Hopkin, Robert J.;
- Zhang, Xue;
- Saal, Howard M.
Publication type:
Article
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 343, doi. 10.1002/ajmg.a.62514
By:
- Malik, Sajid;
- Nalbant, Gökhan;
- Noreen, Moqadsa;
- Afzal, Muhammad;
- Tolun, Aslıhan
Publication type:
Article
Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 336, doi. 10.1002/ajmg.a.62513
By:
- Daum, Hagit;
- Ganapathi, Mythily;
- Hirsch, Yoel;
- Griffin, Emily L.;
- LeDuc, Charles A.;
- Hagen, Jacob;
- Yagel, Simcha;
- Meiner, Vardiella;
- Chung, Wendy K.;
- Mor‐Shaked, Hagar
Publication type:
Article
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG".
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 382, doi. 10.1002/ajmg.a.62511
By:
- Lugli, Licia;
- Pollazzon, Marzia;
- Bigoni, Stefania;
- Caraffi, Stefano Giuseppe;
- Ferlini, Alessandra;
- Ferri, Lorenzo;
- Morrone, Amelia;
- Calabrese, Olga;
- Iughetti, Lorenzo;
- Garavelli, Livia;
- Berardi, Alberto
Publication type:
Article
Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1‐related disease.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 332, doi. 10.1002/ajmg.a.62510
By:
- Moller‐Hansen, Ashley;
- Huynh, Stephanie;
- Boerkoel, Cornelius F.;
- Chin, Hui‐Lin
Publication type:
Article
NDE1‐related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 326, doi. 10.1002/ajmg.a.62508
By:
- Bas, Hasan;
- Saylisoy, Suzan;
- Cilingir, Oguz;
- Gokalp, Ebru Erzurumluoglu;
- Kocagil, Sinem;
- Yarar, Coskun;
- Aras, Beyhan Durak;
- Artan, Sevilhan
Publication type:
Article
Novel hemizygous loss‐of‐function variant in NONO identified in a South African boy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 373, doi. 10.1002/ajmg.a.62509
By:
- Coetzer, Kimberly Christine;
- Moosa, Shahida
Publication type:
Article
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 310, doi. 10.1002/ajmg.a.62502
By:
- Zheng, Bixia;
- Wang, Chunyan;
- Seltzsam, Steve;
- Schneider, Sophia;
- Schierbaum, Luca;
- Wu, Wilfred;
- Dai, Rufeng;
- Connaughton, Dervla M.;
- Nakayama, Makiko;
- Mann, Nina;
- Bauer, Stuart B.;
- Awad, Hazem S.;
- Eid, Loai A.;
- Tasic, Velibor;
- Shril, Shirlee;
- Hildebrandt, Friedhelm
Publication type:
Article
Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 116, doi. 10.1002/ajmg.a.62501
By:
- Ali, Rehab;
- Al‐Dewik, Nader;
- Mohammed, Shayma;
- Elfituri, Mahmud;
- Agouba, Sahar;
- Musa, Sara;
- Mahmoud, Laila;
- Almulla, Mariam;
- El‐Akouri, Karen;
- Mohd, Howaida;
- Bux, Reem;
- Almulla, Hajer;
- Othman, Amna;
- Al‐Mesaifri, Fatma;
- Shahbeck, Noora;
- Al‐Muriekhi, Mariam;
- Khalifa, Amal;
- Al‐Sulaiman, Reem;
- Ben‐Omran, Tawfeg
Publication type:
Article
A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 319, doi. 10.1002/ajmg.a.62506
By:
- Cisarova, Katarina;
- Garavelli, Livia;
- Caraffi, Stefano Giuseppe;
- Peluso, Francesca;
- Valeri, Lara;
- Gargano, Giancarlo;
- Gavioli, Sara;
- Trimarchi, Gabriele;
- Neri, Alberto;
- Campos‐Xavier, Belinda;
- Superti‐Furga, Andrea
Publication type:
Article
Genomic analysis of "microphenotypes" in epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 138, doi. 10.1002/ajmg.a.62505
By:
- Stanley, Kate;
- Hostyk, Joseph;
- Tran, Linh;
- Amengual‐Gual, Marta;
- Dugan, Patricia;
- Clark, Justice;
- Choi, Hyunmi;
- Tchapyjnikov, Dmitry;
- Perucca, Piero;
- Fernandes, Cecilia;
- Andrade, Danielle;
- Devinsky, Orrin;
- Cavalleri, Gianpiero L.;
- Depondt, Chantal;
- Sen, Arjune;
- O'Brien, Terence;
- Heinzen, Erin;
- Loddenkemper, Tobias;
- Goldstein, David B.;
- Mikati, Mohamed A.
Publication type:
Article
Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 298, doi. 10.1002/ajmg.a.62499
By:
- McDermott, Helen;
- Robinson, Hannah K.;
- Caswell, Richard;
- Gowda, Harsha;
- Offiah, Amaka;
- Naik, Swati
Publication type:
Article
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 384, doi. 10.1002/ajmg.a.62498
By:
- Koh, Ai Ling;
- Bonnard, Carine;
- Binte Ali, Nur Ain;
- Reversade, Bruno;
- Jamuar, Saumya
Publication type:
Article
Genetic and phenotypic heterogeneity in KIAA0753‐related ciliopathies.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 104, doi. 10.1002/ajmg.a.62497
By:
- Inskeep, Katherine A.;
- Zarate, Yuri A.;
- Monteil, Danielle;
- Spranger, Jurgen;
- Doherty, Dan;
- Stottmann, Rolf W.;
- Weaver, K. Nicole
Publication type:
Article
Manifestation of epilepsy in a patient with EED‐related overgrowth (Cohen–Gibson syndrome).
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 292, doi. 10.1002/ajmg.a.62496
By:
- Hetzelt, Katalin L. M. L.;
- Winterholler, Martin;
- Kerling, Frank;
- Rauch, Christophe;
- Ekici, Arif B.;
- Winterpacht, Andreas;
- Vasileiou, Georgia;
- Uebe, Steffen;
- Thiel, Christian T.;
- Kraus, Cornelia;
- Reis, André;
- Zweier, Christiane
Publication type:
Article
Digital vascular lesions detected by transillumination.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 99, doi. 10.1002/ajmg.a.62495
Publication type:
Article
A de novoCSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 283, doi. 10.1002/ajmg.a.62494
By:
- Gangfuß, Andrea;
- Lochmüller, Hanns;
- Töpf, Ana;
- O'Heir, Emily;
- Horvath, Rita;
- Kölbel, Heike;
- Schweiger, Bernd;
- Schara‐Schmidt, Ulrike;
- Roos, Andreas
Publication type:
Article
Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 89, doi. 10.1002/ajmg.a.62493
By:
- Li, Miaomiao;
- Tian, Weibing;
- Wang, Fengqi;
- Yang, Chengyu;
- Zhang, Lu;
- Tang, Qian;
- Liu, Shiguo;
- Wang, Fang
Publication type:
Article
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 272, doi. 10.1002/ajmg.a.62492
By:
- von der Lippe, Charlotte;
- Tveten, Kristian;
- Prescott, Trine E.;
- Holla, Øystein L.;
- Busk, Øyvind L.;
- Burke, Katherine B.;
- Sansbury, Francis H.;
- Baptista, Júlia;
- Fry, Andrew E.;
- Lim, Derek;
- Jolles, Stephen;
- Evans, Jennifer;
- Osio, Deborah;
- Macmillan, Carol;
- Bruno, Irene;
- Faletra, Flavio;
- Climent, Salvador;
- Urreitzi, Roser;
- Hoenicka, Janet;
- Palau, Francesc
Publication type:
Article
The rate of secondary genomic findings in the Saudi population.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 83, doi. 10.1002/ajmg.a.62491
By:
- Aloraini, Taghrid;
- Alsubaie, Lamia;
- Alasker, Sarah;
- Al Muitiri, Abdulrahman;
- Alswaid, Abdulrahman;
- Eyiad, Wafaa;
- Al Mutairi, Fuad;
- Ababneh, Farouq;
- Alfadhel, Majid;
- Alfares, Ahmed
Publication type:
Article
Impact of the coronavirus pandemic on mental health and health care in adults with neurofibromatosis: Patient perspectives from an online survey.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 71, doi. 10.1002/ajmg.a.62490
By:
- Wolters, Pamela L.;
- Reda, Stephanie;
- Martin, Staci;
- Al Ghriwati, Nour;
- Baker, Melissa;
- Berg, Dale;
- Erickson, Gregg;
- Franklin, Barbara;
- Merker, Vanessa L.;
- Oberlander, Beverly;
- Reeve, Stephanie;
- Rohl, Claas;
- Rosser, Tena;
- Toledo‐Tamula, Mary Anne;
- Vranceanu, Ana‐Maria
Publication type:
Article
Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt–Oram syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 58, doi. 10.1002/ajmg.a.62488
By:
- Wang, De‐Gang;
- Dong, Xing‐Sheng;
- Xiong, Yi;
- Li, Zhi‐Ming;
- Xie, Ying‐Jun;
- Liang, Shu‐Hua;
- Huang, Tian‐Hua
Publication type:
Article
Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 46, doi. 10.1002/ajmg.a.62487
By:
- Verbesselt, Jente;
- Zink, Inge;
- Breckpot, Jeroen;
- Swillen, Ann
Publication type:
Article
Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 269, doi. 10.1002/ajmg.a.62486
By:
- Chooey, Jonathan;
- Trexler, Connor;
- Becker, Amy M.;
- Hogue, Jacob S.
Publication type:
Article
Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2 deletion syndrome: A cross‐sectional survey in Japan.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 37, doi. 10.1002/ajmg.a.62485
By:
- Morishima, Ryo;
- Kumakura, Yousuke;
- Usami, Satoshi;
- Kanehara, Akiko;
- Tanaka, Miho;
- Okochi, Noriko;
- Nakajima, Naomi;
- Hamada, Junko;
- Ogawa, Tomoko;
- Ando, Shuntaro;
- Tamune, Hidetaka;
- Nakahara, Mutsumi;
- Jinde, Seiichiro;
- Kano, Yukiko;
- Tanaka, Kyoko;
- Hirata, Yoichiro;
- Oka, Akira;
- Kasai, Kiyoto
Publication type:
Article
Congenital heart defects and copy number variants associated with neurodevelopmental impairment.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 13, doi. 10.1002/ajmg.a.62484
By:
- Findley, Tina O.;
- Crain, Alyssa K.;
- Mahajan, Smridhi;
- Deniwar, Ahmed;
- Davis, Jessica;
- Solis Zavala, Ana S.;
- Corno, Antonio F.;
- Rodriguez‐Buritica, David
Publication type:
Article
Gain in growth after surgical repair of congenital heart disease among children with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 24, doi. 10.1002/ajmg.a.62483
By:
- Saquib, Nazmus;
- Al Sarraj, Anas Naser;
- Oubaied, Baraa Tarek Ziad;
- Rajab, Ahmad Mamoun;
- Agha, Bana Nasser;
- Hossain, Jesmin;
- Almazrou, Abdulrahman;
- Saquib, Juliann
Publication type:
Article
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 259, doi. 10.1002/ajmg.a.62482
By:
- Odom, John;
- Amin, Hitha;
- Gijavanekar, Charul;
- Elsea, Sarah H.;
- Kralik, Stephen;
- Chinen, Javier;
- Lin, Yuezhen;
- Yates, Amber Meshell Mayfield;
- Mizerik, Elizabeth;
- Potocki, Lorraine;
- Scaglia, Fernando
Publication type:
Article
A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 31, doi. 10.1002/ajmg.a.62480
By:
- Jia, Weimin;
- Zhou, Xiaopei;
- Guo, Naiqiang;
- Zhang, Dazhi;
- Hou, Meiqi;
- Luo, Yalin;
- Peng, Xuejie;
- Yang, Xue;
- Zhang, Xianqin
Publication type:
Article
Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐B receptor (LBR)‐related regressive spondylometaphyseal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 253, doi. 10.1002/ajmg.a.62479
By:
- Turgut, Gozde Tutku;
- Güleç, Çağrı;
- Sarac Sivrikoz, Tugba;
- Kale, Hamdi;
- Karaman, Birsen;
- Nishimura, Gen;
- Altunoglu, Umut
Publication type:
Article
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome and Aicardi‐Goutières syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 249, doi. 10.1002/ajmg.a.62478
By:
- Hasegawa, Kosei;
- Tanaka, Hiroyuki;
- Futagawa, Natsuko;
- Miyahara, Hiroyuki;
- Higuchi, Yousuke;
- Tsukahara, Hirokazu
Publication type:
Article
Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 377, doi. 10.1002/ajmg.a.62477
By:
- Tran, Tu Nguyen Anh;
- Phan, Huy Ngoc;
- Vu, Hoang Anh;
- Nguyen, Hao Trong
Publication type:
Article
ACMG Updates Guidance on Carrier Screening.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 9, doi. 10.1002/ajmg.a.62267
Publication type:
Article
Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 237, doi. 10.1002/ajmg.a.62475
By:
- Wang, Xianling;
- Li, Xu‐Ying;
- Piao, Yueshan;
- Yuan, Guobin;
- Lin, Yicong;
- Chen, Hai;
- Wang, Zhanjun;
- Li, Cunjiang;
- Wang, Chaodong
Publication type:
Article
Cover Image, Volume 188A, Number 1, January 2022.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. i, doi. 10.1002/ajmg.a.62265
Publication type:
Article