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Trends in the survival of patients with trisomy 13 from 1995 to 2021: A population study in Japan.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63710
By:
- Kato, Narumi;
- Morisaki, Naho;
- Moriichi, Akinori
Publication type:
Article
Table of Contents, Volume 194A, Number 9, September 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63255
Publication type:
Article
Expanded prenatal phenotype of ALG12‐associated congenital disorder of glycosylation including bilateral multicystic kidneys.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63660
By:
- Shanmugasundaram, Manjushree;
- Wang, Amanda;
- Morand, Megan;
- Bixler, Colin;
- Jain, Sangeeta;
- Ray, Joseph
Publication type:
Article
Aminotransferase trends in propionic acidemia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63659
By:
- Silva, Maria P.;
- Raski, Carolyn R.;
- Charrow, Joel;
- Baker, Joshua J.;
- Prada, Carlos E.
Publication type:
Article
Neurodevelopmental disorder associated with gene ARF3: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63658
By:
- dos Santos Henrique, Suelen;
- França, Mariana Jordão;
- Silva Junior, Rui Carlos;
- Santos, Mara Lúcia Schmitz Ferreira;
- do Valle, Daniel Almeida
Publication type:
Article
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63657
By:
- Ho, Stephanie K. L.;
- Ng, Samuel Y. L.;
- Yung, Tsz‐Kwai;
- Mok, Myth T. S.;
- Yiu, Wing‐Chung;
- Cheng, Heidi H. Y.;
- Cheng, Shirley S. W.;
- Luk, Ho‐ming;
- Lo, Ivan F. M.;
- Kan, Anita S. Y.
Publication type:
Article
ITPR1: The missing gene in miosis–ataxia syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63655
By:
- Chesneau, Bertrand;
- Calvas, Patrick;
- Cassagne, Myriam;
- Varenne, Fanny;
- Rozet, Jean‐Michel;
- Bonneville, Fabrice;
- Chassaing, Nicolas;
- Fournié, Pierre;
- Fares‐Taie, Lucas;
- Plaisancié, Julie
Publication type:
Article
Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63654
By:
- Bas, Hasan;
- Durmaz, Ceren Damla;
- Tombak, Merve Celenkoglu;
- Cetin, Gokhan Ozan;
- Karaer, Kadri
Publication type:
Article
Neuropsychological functioning of adults with PTEN hamartoma tumor syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63653
By:
- Oldenboom, Carmen;
- Drissen, Meggie M. C. M.;
- van Dongen, Linde C. M.;
- Kleefstra, Tjitske;
- Prins, Judith B.;
- Egger, Jos I. M.;
- Hoogerbrugge, Nicoline
Publication type:
Article
Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63630
By:
- Ryan, Emory;
- Nishimura, Samantha;
- Lopez, Grisel;
- Tayebi, Nahid;
- Sidransky, Ellen
Publication type:
Article
Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63651
By:
- Makwana, Rikhil;
- Christ, Carolina;
- Marchi, Elaine;
- Harpell, Randie;
- Lyon, Gholson J.
Publication type:
Article
Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63650
By:
- Damon, Jenna;
- Chase, Colby;
- Higashimoto, Tomoyasu
Publication type:
Article
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63646
By:
- MacCarrick, Gretchen;
- Aradhya, Swaroop;
- Bailey, Mitch;
- Chu, Dorna;
- Hunt, Abigail;
- Izzo, Emanuela;
- Krakow, Deborah;
- Mackenzie, William;
- Poll, Sarah;
- Raggio, Cathleen;
- Shediac, Renée;
- White, Klane K.;
- McLaughlin, Heather M.;
- Seratti, Guillermo
Publication type:
Article
SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63648
By:
- Vautier, Sabine;
- Mauillon, Jacques;
- Parodi, Nathalie;
- Bou, Jacqueline;
- Kasper, Edwige;
- Manase, Sandrine;
- Houdayer, Claude;
- Baert‐Desurmont, Stéphanie
Publication type:
Article
Noonan syndrome‐like phenotype associated with an ERF frameshift variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63652
By:
- Hirano, Yasuhiro;
- Kuroda, Yukiko;
- Enomoto, Yumi;
- Naruto, Takuya;
- Muroya, Koji;
- Kurosawa, Kenji
Publication type:
Article
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63629
By:
- Şimşek‐Kiper, Pelin Özlem;
- Karaosmanoğlu, Beren;
- Taşkıran, Ekim Zihni;
- Türer, Özlem Boybeyi;
- Utine, Gülen Eda;
- Soyer, Tutku
Publication type:
Article
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63645
By:
- Gürbüz, Berrak Bilginer;
- Gülbakan, Basri;
- Özgül, Rıza Köksal;
- Yalnızoğlu, Dilek;
- Yılmaz, Didem Yücel;
- Göçmen, Rahşan;
- Koşukcu, Can;
- Kandemir, Nurgün;
- Acar, Neşe Vardar;
- Salih, Bekir;
- Dursun, Ali
Publication type:
Article
Identification of a de novo PUF60 variant associated with craniofacial microsomia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63631
By:
- Ogawa, Takuya;
- Xue, Jingyi;
- Guo, Long;
- Inoue‐Arai, Maristela Sayuri;
- Vendramini‐Pittoli, Siulan;
- Zechi‐Ceide, Roseli Maria;
- Candido‐Souza, Rosana Maria;
- Tonello, Cristiano;
- Brandão, Michele Madeira;
- Ozawa, Terumi Okada;
- Peixoto, Adriano Porto;
- Ruiz, Daniela Maria Cury Ferreira;
- Nakashima, Tomoki;
- Ikegawa, Shiro;
- Moriyama, Keiji;
- Kokitsu‐Nakata, Nancy Mizue
Publication type:
Article
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63642
By:
- Blanc, Albin;
- Bonnet, Céline;
- Wandzel, Marion;
- Roth, Virginie;
- Duffourd, Yannis;
- Safraou, Hanna;
- Leheup, Bruno;
- Muller, Florence;
- D Colne, Julie;
- Feillet, François;
- Schmitt, Emmanuelle;
- Castro, Matheus;
- Savatt, Jullian;
- Burcheri, Adriano;
- Nemos, Christophe;
- Philippe, Christophe;
- Lambert, Laëtitia
Publication type:
Article
Adults with paternal UPD14 causing Kagami–Ogata syndrome: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63625
By:
- Smith, Christopher S.;
- Riddell, Madison;
- Badalato, Lauren;
- Au, Ping Yee Billie
Publication type:
Article
X‐linked genetic associations in sporadic thoracic aortic dissection.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63644
By:
- Musfee, Fadi I.;
- Jun, Goo;
- Mitchell, Laura E.;
- Chen, Han;
- Guo, Dongchuan;
- Prakash, Siddharth K.;
- Adkar, Shaunak Sanjay;
- Grove, Megan L.;
- Choi, Ryan Bohyun;
- Klarin, Derek;
- Boerwinkle, Eric;
- Milewicz, Dianna M.
Publication type:
Article
Mitochondrial phosphate‐carrier deficiency mimicking infantile‐onset Pompe disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63643
By:
- Küçükcongar Yavaş, Aynur;
- Basan, Hacer;
- Dinçer, Serpil;
- Bilginer Gürbüz, Berrak;
- Kasapkara, Çiğdem Seher
Publication type:
Article
A novel AP1S2 variant causing leaky splicing in X‐linked intellectual disability: Further delineation and intrafamilial variability.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63639
By:
- Noojarern, Saisuda;
- Tim‐Aroon, Thipwimol;
- Anurat, Kingthong;
- Phetthong, Tim;
- Khongkraparn, Arthaporn;
- Wattanasirichaigoon, Duangrurdee
Publication type:
Article
Next‐generation phenotyping in Nigerian children with Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63641
By:
- Arlt, Annabelle;
- Knaus, Alexej;
- Hsieh, Tzung‐Chien;
- Klinkhammer, Hannah;
- Bhasin, Meghna Ahuja;
- Hustinx, Alexander;
- Moosa, Shahida;
- Krawitz, Peter;
- Ekure, Ekanem
Publication type:
Article
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63628
By:
- Togi, Sumihito;
- Ura, Hiroki;
- Niida, Yo
Publication type:
Article
The interplay of psychosis and non‐compliance with fatal outcome in an adult with MSUD.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63637
By:
- Falah, Nadia;
- Pendyal, Surekha;
- Sasannejad, Cina;
- Gibson, Allison;
- Lee, Yu Lin;
- McDonald, Marie;
- Koeberl, Dwight
Publication type:
Article
A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63636
By:
- Kaya, Derya;
- Ceylan Köse, Canan;
- Akcan, Mehmet Berkay;
- Silan, Fatma
Publication type:
Article
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63633
By:
- Morrison, Kaitlin;
- Koshiya, Hitoshi;
- Safier, Robert;
- Brown, Amanda;
- May, Carol;
- Vockley, Jerry;
- Ghaloul‐Gonzalez, Lina
Publication type:
Article
Different fetal effects on fingers from exposure to phenytoin, phenobarbital, and carbamazepine.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63620
By:
- Holmes, Lewis B.;
- Hunt, Anne‐Therese
Publication type:
Article
Expansion of the core features of VACTERL association to include genital anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63587
By:
- Forero, Laura T.;
- Henderson, Riley;
- Galarreta, Carolina;
- Swee, Steven;
- Bird, Lynne M.
Publication type:
Article
Massive pericardial effusion in an infant with Aymé–Gripp syndrome: A case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63586
By:
- Esposito, Arianna;
- Niceta, Marcello;
- Novelli, Antonio;
- Magliozzi, Monia;
- Parlapiano, Giovanni;
- Baban, Anwar;
- Perrone, Marco Alfonso
Publication type:
Article
Table of Contents, Volume 194A, Number 9, September 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63255
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63286
Publication type:
Article
Accessible Molecular Testing Needed in Low Resource Settings.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63285
Publication type:
Article
Noncoding Gene Identified as Relatively Common Cause of Intellectual Disability.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63284
Publication type:
Article

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