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
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
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
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
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