Works matching IS 15524868 AND DT 2024 AND VI 196 AND IP 4

Results: 13

Cover Image, Volume 196, Number 4, December 2024.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32126
Publication type:: Article

The Myhre Syndrome Foundation as a global modern support group: The business of rare.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32104

By:

Wears, Kate;
Lin, Angela E.;
Starr, Lois J.

Publication type:

Article

Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32103

By:

Bibi, Anisa;
Ji, Weizhen;
Jeffries, Lauren;
Zerillo, Cynthia;
Konstantino, Monica;
Mis, Emily K.;
Khursheed, Filza;
Khokha, Mustafa K.;
Lakhani, Saquib A.;
Malik, Sajid

Publication type:

Article

Catatonia responsive to corticosteroids in a patient with an SCN2A variant.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32101

By:

Senko, Kimberly;
Saddoris, Kelsey L.;
Baus, Ella;
Soe, Katherine;
Vaughn, Samuel E.

Publication type:

Article

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32099

By:

Gasparini, Simone;
Balestrini, Simona;
Saccaro, Luigi Francesco;
Bacci, Giacomo;
Panichella, Giorgia;
Montomoli, Martino;
Cantalupo, Gaetano;
Bigoni, Stefania;
Mancano, Giorgia;
Pellacani, Simona;
Leuzzi, Vincenzo;
Volpi, Nila;
Mari, Francesco;
Melani, Federico;
Cavallin, Mara;
Pisano, Tiziana;
Porcedda, Giulio;
Vaglio, Augusto;
Mei, Davide;
Barba, Carmen

Publication type:

Article

Practicalities (and real‐life experiences) of dementia in adults with Down syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32098

By:

Harisinghani, Ayesha;
Cottrell, Clorinda;
Donelan, Karen;
Lam, Alice D.;
Pulsifer, Margaret;
Santoro, Stephanie L.

Publication type:

Article

Domain‐specific phenotypes in LINS1‐related disorder—A Chinese family with the Q92X variant and literature review.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32085

By:

Li, Xu‐Ying;
Wang, Zhanjun;
Yang, Yanping;
Lin, Ruichai;
Wang, Chaodong

Publication type:

Article

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32095

By:

Garzon, Jenny P.;
Patete, Andrea;
Aschbacher‐Smith, Lindsey;
Qu'd, Dima;
Kelly‐Mancuso, Geraldine;
Raski, Carolyn R.;
Weisman, Allison Goetsch;
Hankins, Madison;
Sawin, Michael;
Kim, Katherine;
Drackley, Andy;
Zeid, Janice;
Weaver, K. Nicole;
Hopkin, Robert J.;
Saal, Howard M.;
Charrow, Joel;
Schorry, Elizabeth;
Listernick, Robert;
Simpson, Brittany N.;
Prada, Carlos E.

Publication type:

Article

Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32089

By:

Sarli, Camilla;
van der Laan, Liselot;
Reilly, Jack;
Trajkova, Slavica;
Carli, Diana;
Brusco, Alfredo;
Levy, Michael A.;
Relator, Raissa;
Kerkhof, Jennifer;
McConkey, Haley;
Tedder, Matthew L.;
Skinner, Cindy;
Alders, Mariëlle;
Henneman, Peter;
Hennekam, Raoul C. M.;
Ciaccio, Claudia;
D'Arrigo, Stefano;
Vitobello, Antonio;
Faivre, Laurence;
Weber, Sacha

Publication type:

Article

Simpson–Golabi–Behmel syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32088

By:

Vaisfeld, Alessandro;
Neri, Giovanni

Publication type:

Article

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32087

By:

Margot, Henri;
Pizano, Adrien;
Amestoy, Anouck;
Lacombe, Didier;
Berges, Camille;
Beneteau, Claire;
Innes, A. Micheil

Publication type:

Article

Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32097

By:

Rubenstein, Eric;
Tewolde, Salina;
Skotko, Brian G.;
Michals, Amy;
Fortea, Juan

Publication type:

Article

Table of Contents, Volume 196, Number 4, December 2024.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32050
Publication type:: Article