Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 10

Results: 26

The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2591, doi. 10.1002/ajmg.a.63351
By:
- Ng, Rowena;
- Kalinousky, Allison;
- Fahrner, Jill A.;
- Bjornsson, Hans Tomas;
- Harris, Jacqueline
Publication type:
Article
Novel homozygous LAMB1 in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2656, doi. 10.1002/ajmg.a.63349
By:
- Toutouna, Louiza;
- Beck‐Woedl, Stefanie;
- Feige, Ursula;
- Glaeser, Birgitta;
- Komlosi, Katalin;
- Eckenweiler, Matthias;
- Luetzen, Niklas;
- Haack, Tobias B.;
- Fischer, Judith;
- Bader, Ingrid;
- Tzschach, Andreas
Publication type:
Article
Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2651, doi. 10.1002/ajmg.a.63348
By:
- Hodapp, Matthew;
- Hing, Anne V.;
- Gallagher, Emily;
- Blessing, Matthew;
- Cunningham, Michael L.
Publication type:
Article
Neurofibromatosis‐ and schwannomatosis‐associated tumors: Approaches to genetic testing and counseling considerations.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2467, doi. 10.1002/ajmg.a.63346
By:
- Goetsch Weisman, Allison;
- Weiss McQuaid, Shelly;
- Radtke, Heather B.;
- Stoll, Jessica;
- Brown, Bryce;
- Gomes, Alicia
Publication type:
Article
Revisiting the diagnosis of Gaucher disease in a family with multiple GBA1 variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2647, doi. 10.1002/ajmg.a.63345
By:
- Ryan, Emory;
- Tayebi, Nahid;
- D'Souza, Andrea;
- Lopez, Grisel;
- Lichtenberg, Jens;
- Sidransky, Ellen
Publication type:
Article
The importance of gynecological examination in adolescent girls and adult women with Prader–Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2585, doi. 10.1002/ajmg.a.63343
By:
- Srebnik, Naama;
- Kalifa, Tal Margaliot;
- Hirsch, Harry J.;
- Benarroch, Fortu;
- Eldar‐Geva, Talia;
- Gross‐Tsur, Varda
Publication type:
Article
Turner syndrome may be associated with hepatic adenoma.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2578, doi. 10.1002/ajmg.a.63341
By:
- Ching, Alisha S.;
- Zhang, Xiao;
- Furuya, Katryn N.;
- Benoy, Megan E.;
- Bartlett, Heather L.
Publication type:
Article
Five siblings expand the spectrum of GPC6‐related skeletal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2571, doi. 10.1002/ajmg.a.63337
By:
- Crenshaw, Molly M.;
- Meyers, Mariana L.;
- Brown, Kathleen;
- Slegesky, Valerie;
- Duis, Jessica;
- Elias, Ellen R.;
- Saenz, Margarita;
- Shi, Wen;
- Filmus, Jorge;
- Meeks, Naomi J. L.
Publication type:
Article
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2558, doi. 10.1002/ajmg.a.63336
By:
- Diaz Perez, Kimberly K.;
- Chung, Sydney;
- Head, S. Taylor;
- Epstein, Michael P.;
- Hecht, Jacqueline T.;
- Wehby, George L.;
- Weinberg, Seth M.;
- Murray, Jeffrey C.;
- Marazita, Mary L.;
- Leslie, Elizabeth J.
Publication type:
Article
Proximal 1q21 duplication: A syndrome or a susceptibility locus?
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2551, doi. 10.1002/ajmg.a.63333
By:
- Levy, Michal;
- Shohat, Mordechai;
- Kahana, Sarit;
- Matar, Reut;
- Klein, Kochav;
- Fishman, Ifat Agmon;
- Gurevitch, Merav;
- Basel‐Salmon, Lina;
- Maya, Idit
Publication type:
Article
ACMG Seeks to Advance Equitable Access to Clinical Genetics/Genomics Testing.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2463, doi. 10.1002/ajmg.a.62831
Publication type:
Article
The spectrum of hereditary neuromuscular disorders in the Pakistani population.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2536, doi. 10.1002/ajmg.a.63332
By:
- Akbar, Fizza;
- Saleem, Shafaq Muhammad;
- Khalid, Ehtesham;
- Ibrahim, Shahnaz;
- Afroze, Bushra;
- Kirmani, Salman;
- Khan, Sara
Publication type:
Article
Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers‐Danlos syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2631, doi. 10.1002/ajmg.a.63328
By:
- Furuhata‐Yoshimura, Megumi;
- Yamaguchi, Tomomi;
- Izu, Yayoi;
- Kosho, Tomoki
Publication type:
Article
Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X‐linked retinoschisis from North India.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2524, doi. 10.1002/ajmg.a.63327
By:
- Chatterjee, Souradip;
- Gupta, Shashank;
- Kirola, Laxmi;
- Chandra, Abhishek;
- Mukherjee, Ashim;
- Mutsuddi, Mousumi
Publication type:
Article
Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2623, doi. 10.1002/ajmg.a.63326
By:
- Salah, Somaya;
- Jaber, Hiba;
- Frumkin, Ayala;
- Harel, Tamar
Publication type:
Article
Incidence and outcome of arrhythmias and electrical disease in patients with Trisomy 18.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2518, doi. 10.1002/ajmg.a.63324
By:
- Czosek, Richard J.;
- Baskar, Shankar;
- Mohan, Shaun;
- Anderson, Jeffrey B.;
- Spar, David S.
Publication type:
Article
Missense variant in SRCAP with distinct DNA methylation signature associated with non‐FLHS SRCAP‐related neurodevelopmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2640, doi. 10.1002/ajmg.a.63329
By:
- White‐Brown, Alexandre;
- Choufani, Sanaa;
- Weksberg, Rosanna;
- Dyment, David
Publication type:
Article
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2508, doi. 10.1002/ajmg.a.63320
By:
- Nair, Divya;
- Diaz‐Rosado, Abdias;
- Varella‐Branco, Elisa;
- Ramos, Igor;
- Black, Aaron;
- Angireddy, Rajesh;
- Park, Joseph;
- Murali, Svathi;
- Yoon, Andrew;
- Ciesielski, Brianna;
- O'Brien, W. Timothy;
- Passos‐Bueno, Maria Rita;
- Bhoj, Elizabeth
Publication type:
Article
New Framework Released on Using Population Descriptors in Genetics and Genomics Research.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2462, doi. 10.1002/ajmg.a.62830
Publication type:
Article
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2482, doi. 10.1002/ajmg.a.63309
By:
- Tinker, Rory J.;
- Bastarache, Lisa;
- Ezell, Kimberly;
- Kobren, Shilpa Nadimpalli;
- Esteves, Cecilia;
- Rosenfeld, Jill A.;
- Macnamara, Ellen F.;
- Hamid, Rizwan;
- Cogan, Joy D.;
- Rinker, David;
- Mukharjee, Souhrid;
- Glass, Ian;
- Dipple, Katrina;
- Phillips, John A.
Publication type:
Article
Expansion of clinical and variant spectrum of EEF2‐related neurodevelopmental disorder: Report of two additional cases.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2602, doi. 10.1002/ajmg.a.63230
By:
- Guo, Rose;
- Rippert, Alyssa L.;
- Cook, Edward B.;
- Alves, Cesar Augusto P.;
- Bird, Lynne M.;
- Izumi, Kosuke
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2465, doi. 10.1002/ajmg.a.62832
Publication type:
Article
Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2493, doi. 10.1002/ajmg.a.63319
By:
- Serigatto, Henrique Regonaschi;
- Kokitsu‐Nakata, Nancy Mizue;
- Vendramini‐Pittoli, Siulan;
- Tonello, Cristiano;
- Moura, Priscila Padilha;
- Peixoto, Adriano Porto;
- Gomes, Luiz Paulo;
- Zechi‐Ceide, Roseli Maria
Publication type:
Article
PUF60‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2610, doi. 10.1002/ajmg.a.63313
By:
- Grimes, H.;
- Ansari, M.;
- Ashraf, T.;
- Cueto‐González, Anna Mª.;
- Calder, A.;
- Day, M.;
- Fernandez Alvarez, P.;
- Foster, A.;
- Lahiri, N.;
- Repetto, G. M.;
- Scurr, I.;
- Varghese, V.;
- Low, Karen J.
Publication type:
Article
Publication schedule for 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2461, doi. 10.1002/ajmg.a.62829
Publication type:
Article
Table of Contents, Volume 191A, Number 10, October 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2457, doi. 10.1002/ajmg.a.62828
Publication type:
Article