Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 4

Results: 52

Long-term weight control in adults with Prader-Willi syndrome living in residential hostels.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1175, doi. 10.1002/ajmg.a.62101
By:
- Hirsch, Harry J.;
- Benarroch, Fortu;
- Genstil, Larry;
- Pollak, | Yehuda;
- Derei, Dvorit;
- Forer, Dorit;
- Ben-Yehuda, Hadassa Mastey;
- Gross-Tsur, Varda
Publication type:
Article
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1288, doi. 10.1002/ajmg.a.62100
By:
- Saad, Ahmed K.;
- Maraf, Dana;
- Mitani, Tadahiro;
- Du, Haowei;
- Rafat, Karima;
- Fatih, Jawid M.;
- Jhangiani, Shalini N.;
- Coban-Akdemir, Zeynep;
- Gibbs, Richard A.;
- Pehlivan, Davut;
- Hunter, Jill V.;
- Posey, Jennifer E.;
- Zaki, Maha S.;
- Lupski, James R.
Publication type:
Article
Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1282, doi. 10.1002/ajmg.a.62099
By:
- Raygada, Margarita;
- Raffeld, Mark;
- Bernstein, Andrew;
- Miettinen, Markku;
- Glod, John;
- Hughes, Marybeth S.;
- Reilly, Karlyne;
- Widemann, Brigitte;
- Rivero, Jaydira Del
Publication type:
Article
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1275, doi. 10.1002/ajmg.a.62098
By:
- Mattioli, Francesca;
- Voisin, Norine;
- Preikšaitienė, Eglė;
- Kozlovskaja, Irina;
- Kucˇinskas, Vaidutis;
- Reymond, Alexandre
Publication type:
Article
Surveillance guidelines for children with trisomy 18.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1294, doi. 10.1002/ajmg.a.62097
By:
- Kepple, Jeffrey W.;
- Fishler, Kristen P.;
- Peeples, Eric S.
Publication type:
Article
CLARITY: Co-occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1168, doi. 10.1002/ajmg.a.62096
By:
- Legare, Janet M.;
- Pauli, Richard M.;
- Hecht, Jacqueline T.;
- Bober, Michael B.;
- Smid, Cory J.;
- Modaff, Peggy;
- Little, Mary Ellen;
- Rodriguez-Buritica, David F.;
- Serna, Maria Elena;
- Alade, Adekemi Yewande;
- Liu, Chengxin;
- Hoover-Fong, Julie E.;
- Shahrukh Hashmi, S.
Publication type:
Article
Genetic skin disorders: The value of a multidisciplinary clinic.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1159, doi. 10.1002/ajmg.a.62095
By:
- Parker, James Clayton;
- Rangu, Sneha;
- Grand, Katheryn Lynn;
- Bhoj, Elizabeth Joyce;
- Castelo-Soccio, Leslie;
- Sheppard, Sarah E.
Publication type:
Article
Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1270, doi. 10.1002/ajmg.a.62094
By:
- Ernst, Julia;
- Hiasat, Jamila;
- Alabe, Michelle L.;
- Scanga, Hannah L.;
- Motley, William;
- Nischal, Ken K.
Publication type:
Article
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1266, doi. 10.1002/ajmg.a.62093
By:
- Strong, Alanna;
- Dong Li;
- Mentch, Frank;
- Hakonarson, Hakon
Publication type:
Article
The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1151, doi. 10.1002/ajmg.a.62092
By:
- Marwaha, Ashish;
- Chitayat, David;
- Meyn, M. Stephen;
- Mendoza-Londono, Roberto;
- Chad, Lauren
Publication type:
Article
Germ cell mosaicism for AUTS2 exon 6 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1261, doi. 10.1002/ajmg.a.62091
By:
- Gieldon, Laura;
- Jauch, Anna;
- Obeid, Katharina;
- Kaufmann, Lilian;
- Hinderhofer, Katrin;
- Haug, Ulrich;
- Moog, Ute
Publication type:
Article
A dihydrofolate reductase 2 (DHFR2) variant is associated with risk of neural tube defects in an Irish cohort but not in a United Kingdom cohort.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1307, doi. 10.1002/ajmg.a.62090
By:
- Pangilinan, Faith;
- Finlay, Emma K.;
- Molloy, Anne M.;
- Abaan, Hattice O.;
- Shane, Barry;
- Mills, James L.;
- Brody, Lawrence C.;
- Parle-McDermott, Anne
Publication type:
Article
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1256, doi. 10.1002/ajmg.a.62089
By:
- Huckstadt, Victoria;
- Chinton, Josefina;
- Gomez, Abel;
- Obregon, María Gabriela;
- Gravina, Luis Pablo
Publication type:
Article
Novel genetic testing model: A collaboration between genetic counselors and nephrology.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1142, doi. 10.1002/ajmg.a.62088
By:
- Amlie-Wolf, Louise;
- Baker, Laura;
- Hiddemen, Olivia;
- Thomas, Morgan;
- Burke, Christine;
- Gluck, Caroline;
- Zaritsky, Joshua J.;
- Gripp, Karen W.
Publication type:
Article
Auditory phenotype of Smith–Lemli–Opitz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1131, doi. 10.1002/ajmg.a.62087
By:
- Zalewski, Christopher K.;
- Sydlowski, Sarah A.;
- King, Kelly A.;
- Bianconi, Simona;
- Do, An Dang;
- Porter, Forbes D.;
- Brewer, Carmen C.
Publication type:
Article
Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1120, doi. 10.1002/ajmg.a.62086
By:
- Hoang, Ny;
- Yuen, Ryan K. C.;
- Howe, Jennifer;
- Drmic, Irene;
- Ambrozewicz, Patricia;
- Russell, Carolyn;
- Vorstman, Jacob;
- Weiss, Shelly K.;
- Anagnostou, Evdokia;
- Malow, Beth A.;
- Scherer, Stephen W.
Publication type:
Article
Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1251, doi. 10.1002/ajmg.a.62085
By:
- Wild, K. Taylor;
- Nomakuchi, Tomoki T.;
- Sheppard, Sarah E.;
- Leavens, Karla F.;
- De León, Diva D.;
- Zackai, Elaine H.
Publication type:
Article
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1113, doi. 10.1002/ajmg.a.62084
By:
- Maiko Hatano;
- Hiroko Fukushima;
- Tatsuyuki Ohto;
- Yuichi Ueno;
- Saki Saeki;
- Takashi Enokizono;
- Ryuta Tanaka;
- Mai Tanaka;
- Kazuo Imagawa;
- Yu Kanai;
- Mitsuhiro Kato;
- Hiroshi Shiraku;
- Hisato Suzuki;
- Tomoko Uehara;
- Toshiki Takenouchi;
- Kenjiro Kosaki;
- Hidetoshi Takada
Publication type:
Article
Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1324, doi. 10.1002/ajmg.a.62083
By:
- Moirangthem, Amita;
- Phadke, Shubha R.
Publication type:
Article
Clinical and molecular characterization of four patients with Robinow syndrome from different families.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1105, doi. 10.1002/ajmg.a.62082
By:
- Rai, Archana;
- Patil, Siddaramappa J.;
- Srivastava, Priyanka;
- Gaurishankar, Kalpana;
- Phadke, Shubha R.
Publication type:
Article
Circulating free DNA in the plasma of individuals with neurofibromatosis type 1.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1098, doi. 10.1002/ajmg.a.62081
By:
- Kallionpää, Roope A.;
- Ahramo, Kaisa;
- Aaltonen, Marianna;
- Pennanen, Paula;
- Peltonen, Juha;
- Peltonen, Sirkku
Publication type:
Article
Genotype–phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1341, doi. 10.1002/ajmg.a.62080
By:
- Lansdon, Lisa A.;
- Saunders, Carol J.
Publication type:
Article
SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1091, doi. 10.1002/ajmg.a.62079
By:
- McNiven, Vanda;
- Gattini, Daniela;
- Siddiqui, Iram;
- Pelletier, Stephane;
- Brill, Herbert;
- Avitzur, Yaron;
- Mercimek-Andrews, Saadet
Publication type:
Article
Cancer surveillance in children with Ollier Disease and Maffucci Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1338, doi. 10.1002/ajmg.a.62078
By:
- Diezi, Manuel;
- Zambelli, Pierre-Yves;
- Superti-Furga, Andrea;
- Unger, Sheila;
- Renella, Raffaele
Publication type:
Article
MBD5-related intellectual disability in a Vietnamese child.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1321, doi. 10.1002/ajmg.a.62077
By:
- Thanh Nha Uyen Le;
- Thi Minh Thi Ha
Publication type:
Article
Liver transplant as a curative treatment in a pediatric patient with classic homocystinuria: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1247, doi. 10.1002/ajmg.a.62076
By:
- Kerkvlie, Stephanie P.;
- Rheault, Michelle N.;
- Berry, Susan A.
Publication type:
Article
Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1304, doi. 10.1002/ajmg.a.62075
By:
- Happle, Rudolf
Publication type:
Article
Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1242, doi. 10.1002/ajmg.a.62074
By:
- Chanes, Benjamin;
- Arriaza, Marta;
- Lacassie, Yves
Publication type:
Article
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1236, doi. 10.1002/ajmg.a.62073
By:
- Bartlett, Michelle;
- Nasiri, Nima;
- Pressman, Rena;
- Bademci, Guney;
- Forghani, Irman
Publication type:
Article
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1228, doi. 10.1002/ajmg.a.62072
By:
- Edgerley, Katharine;
- Barnicoat, Angela;
- Offiah, Amaka C.;
- Calder, Alistair D.;
- Mankad, Kshitij;
- Thomas, Nicholas Simon;
- Bunyan, David J.;
- Williams, Maggie;
- Buxton, Chris;
- Majumdar, Arniban;
- Vijayakumar, Kayal;
- Hilliard, Tom;
- Turner, James;
- Burren, Christine P.;
- Monsell, Fergal;
- Smithson, Sarah F.
Publication type:
Article
Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1222, doi. 10.1002/ajmg.a.62071
By:
- Smith, Rebecca B.;
- Solem, Emily P.;
- Metz, Emma C.;
- Wheeler, Ferrin C.;
- Phillips III, John A.;
- Yenamandra, Ashwini
Publication type:
Article
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1216, doi. 10.1002/ajmg.a.62070
By:
- Gangfuß, Andrea;
- Yigit, Gökhan;
- Altmüller, Janine;
- Nürnberg, Peter;
- Czeschik, Johanna Christina;
- Wollnik, Bernd;
- Bögershausen, Nina;
- Burfeind, Peter;
- Wieczorek, Dagmar;
- Kaiser, Frank;
- Roos, Andreas;
- Kölbel, Heike;
- Schara-Schmidt, Ulrike;
- Kuechler, Alma
Publication type:
Article
Phenotypic spectrum associated with pathogenic mutation in the NRG1 gene in Acadian family.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1211, doi. 10.1002/ajmg.a.62069
By:
- Bourcier, Liane;
- Crapoulet, Nicolas;
- Ouellette, Rodney J.;
- Mallet, Mathieu;
- Amor, Mouna Ben
Publication type:
Article
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1204, doi. 10.1002/ajmg.a.62068
By:
- Tedesco, Maria Giovanna;
- Lonardo, Fortunato;
- Ceccarini, Caterina;
- Cesarano, Carla;
- Digilio, Maria Cristina;
- Magliozzi, Monia;
- Rogaia, Daniela;
- Mencarelli, Amedea;
- Leoni, Chiara;
- Piscopo, Carmelo;
- Imperatore, Valentina;
- Falco, Maria Teresa;
- Fontana, Paolo;
- Nardone, Anna Maria;
- Novelli, Antonio;
- Troiani, Stefania;
- Seri, Marco;
- Prontera, Paolo
Publication type:
Article
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1195, doi. 10.1002/ajmg.a.62067
By:
- Walczak-Sztulpa, Joanna;
- Wawrocka, Anna;
- Sta(nczyk, Małgorzata;
- Pesz, Karolina;
- Dudarewicz, Lech;
- Chrul, Sławomir;
- Bukowska-Olech, Ewelina;
- Wieczorek-Cichecka, Nina;
- Arts, Heleen H.;
- Oud, Machteld M.;
- Śmigiel, Robert;
- Grenda, Ryszard;
- Obersztyn, Ewa;
- Chrzanowska, Krystyna H.;
- Latos-Biele(nska, Anna
Publication type:
Article
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1081, doi. 10.1002/ajmg.a.62065
By:
- Ayed, Ikhlas Ben;
- Ouarda, Wael;
- Frikha, Fakher;
- Kammoun, Fatma;
- Souissi, Amal;
- Said, Mariem Ben;
- Bouzid, Amal;
- Elloumi, Ines;
- Hamdani, Tarak M.;
- Gharbi, Nourhene;
- Baklouti, Nesrine;
- Guirat, Manel;
- Mejdoub, Fatma;
- Kharrat, Najla;
- Boujelbene, Imene;
- Abdelhedi, Fatma;
- Belguith, Neila;
- Keskes, Leila;
- Gibriel, Abdullah Ahmed;
- Kamoun, Hassen
Publication type:
Article
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1076, doi. 10.1002/ajmg.a.62064
By:
- Mis, Emily K.;
- Sega, Annalisa G.;
- Signer, Rebecca H.;
- Cartwright, Tracy;
- Weizhen Ji;
- Martinez-Agosto, Julian A.;
- Nelson, Stanley F.;
- Palmer, Christina G. S.;
- Hane Lee;
- Mitzelfelt, Thomas;
- Konstantino, Monica;
- Jeffries, Lauren;
- Khokha, Mustafa K.;
- Marco, Elysa;
- Martin, Martin G.;
- Lakhani, Saquib A.
Publication type:
Article
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1067, doi. 10.1002/ajmg.a.62063
By:
- Kikumi Ushijima;
- Yuya Ogawa;
- Miho Terao;
- Yumi Asakura;
- Koji Muroya;
- Mie Hayashi;
- Tomohiro Ishii;
- Tomonobu Hasegawa;
- Ryohei Sekido;
- Maki Fukami;
- Shuji Takada;
- Satoshi Narumi
Publication type:
Article
41st Annual DavidW. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1328, doi. 10.1002/ajmg.a.62062
By:
- Gripp, Karen W.;
- Jones, Kenneth Lyons;
- Wenger, Tara L.;
- Abstract Authors, Smith Workshop;
- Adam, Margaret P.
Publication type:
Article
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, 2021, v. 185, n. 4, p. 1187, doi. 10.1002/ajmg.a.62061
By:
- Lugli, Licia;
- Bariola, Maria Carolina;
- Ferri, Lorenzo;
- Lucaccioni, Laura;
- Bertucci, Emma;
- Cattini, Umberto;
- Torcetta, Francesco;
- Morrone, Amelia;
- Iughetti, Lorenzo;
- Berardi, Alberto
Publication type:
Article
Insufficient development of vessels and alveoli in lungs of infants with trisomy 18—Features of pulmonary histopathological findings from lung biopsy.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1059, doi. 10.1002/ajmg.a.62060
By:
- Masahiro Tahara;
- Kazuya Sanada;
- Risa Morita;
- Hideyuki Hawaka;
- Kotarou Urayama;
- Mitsunobu Sugino;
- Naoki Masaki;
- Shigeo Yamaki
Publication type:
Article
Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1047, doi. 10.1002/ajmg.a.62059
By:
- Perrone, Eduardo;
- Alvarez Perez, Ana Beatriz;
- D'Almeida, Vânia;
- de Mello, Claudia Berlim;
- Avelino Jacobina, Marcela Amaral;
- Loureiro, Rafael Maffei;
- Burlin, Stênio;
- Migliavacca, Michele;
- Amaral Virmond, Luiza do;
- Graziadio, Carla;
- Pedroso, José Luiz;
- Mendes, Elaine Lustosa;
- Gomy, Israel;
- de Macena Sobreira, Nara Lygia
Publication type:
Article
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1317, doi. 10.1002/ajmg.a.62058
By:
- Dissanayake, Ruwangi;
- Senanayake, Manouri P.;
- Fernando, Jerard;
- Robertson, Stephen P.;
- Dissanayake, Vajira H. W.;
- Sirisena, Nirmala D.
Publication type:
Article
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1039, doi. 10.1002/ajmg.a.62057
By:
- Dingemans, Alexander J. M.;
- Stremmelaar, Diante E.;
- Vissers, Lisenka E. L. M.;
- Jansen, Sandra;
- Nabais Sá, Maria J.;
- an Remortele, Angela v;
- Jonis, Noraly;
- Truijen, Kim;
- van de Ven, Sam;
- Ewals, Jeroen;
- Verbruggen, Michel;
- Koolen, David A.;
- Brunner, Han G.;
- Eichler, Evan E.;
- Gecz, Jozef;
- de Vries, Bert B. A.
Publication type:
Article
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1033, doi. 10.1002/ajmg.a.62056
By:
- Faingelernt, Yaniv;
- Hershkovitz, Eli;
- Abu-Libdeh, Bassam;
- Abedrabbo, Amal;
- Amro, Sara Abu-Rmaileh;
- Zarivach, Raz;
- Zangen, David;
- Lavi, Eran;
- Haim, Alon;
- Parvari, Ruti;
- Abu-Libdeh, Abdulsalam
Publication type:
Article
Physical fitness and activity level in Norwegian adults with achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1023, doi. 10.1002/ajmg.a.62055
By:
- Marieke de Vries, Olga;
- Johansen, Heidi;
- Fredwall, Svein Otto
Publication type:
Article
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1182, doi. 10.1002/ajmg.a.62054
By:
- Hisato Suzuki;
- Mie Inaba;
- Mamiko Yamada;
- Tomoko Uehara;
- Toshiki Takenouchi;
- Seiji Mizuno;
- Kenjiro Kosaki;
- Motomichi Doi
Publication type:
Article
Ayme gripp syndrome in an Indian patient.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1312, doi. 10.1002/ajmg.a.62053
By:
- Chaudhry, Chakshu;
- Kaur, Parminder;
- Srivastava, Priyanka;
- Kaur, Anupriya
Publication type:
Article
HOMOCYSTINURIA RESOLVED WITH LIVER TRANSPLANT.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1022
Publication type:
Article
FACIAL PHENOTYPING SOFTWARE SHOWS PROMISE AS POINT-OF-CARE TOOL.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1022
Publication type:
Article