Works matching IS 15524868 AND DT 2017 AND VI 175 AND IP 4

Results: 15

Table of Contents, Volume 175C, Number 4, December 2017.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 393, doi. 10.1002/ajmg.c.31520
Publication type:: Article

Publication schedule for 2017.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 395, doi. 10.1002/ajmg.c.31521
Publication type:: Article

Clinical and molecular effects of CHD7 in the heart.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 487, doi. 10.1002/ajmg.c.31590

By:

Corsten‐Janssen, Nicole;
Scambler, Peter J.

Publication type:

Article

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591

By:

Legendre, Marine;
Abadie, Véronique;
Attié‐Bitach, Tania;
Philip, Nicole;
Busa, Tiffany;
Bonneau, Dominique;
Colin, Estelle;
Dollfus, Hélène;
Lacombe, Didier;
Toutain, Annick;
Blesson, Sophie;
Julia, Sophie;
Martin‐Coignard, Dominique;
Geneviève, David;
Leheup, Bruno;
Odent, Sylvie;
Jouk, Pierre‐Simon;
Mercier, Sandra;
Faivre, Laurence;
Vincent‐Delorme, Catherine

Publication type:

Article

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 397, doi. 10.1002/ajmg.c.31592

By:

Ravenswaaij‐Arts, Conny;
Martin, Donna M.

Publication type:

Article

Guidelines in CHARGE syndrome and the missing link: Cranial imaging.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 450, doi. 10.1002/ajmg.c.31593

By:

de Geus, Christa M.;
Free, Rolien H.;
Verbist, Berit M.;
Sival, Deborah A.;
Blake, Kim D.;
Meiners, Linda C.;
van Ravenswaaij‐Arts, Conny M. A.

Publication type:

Article

Immunodeficiency in CHARGE syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 516, doi. 10.1002/ajmg.c.31594

By:

Mehr, Sam;
Hsu, Peter;
Campbell, Dianne

Publication type:

Article

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. n/a, doi. 10.1002/ajmg.c.31595

By:

Whittaker, Danielle E.;
Kasah, Sahrunizam;
Donovan, Alex P. A.;
Ellegood, Jacob;
Riegman, Kimberley L. H.;
Volk, Holger A.;
McGonnell, Imelda;
Lerch, Jason P.;
Basson, M. Albert

Publication type:

Article

Cover Image, Volume 175C, Number 4, December 2017.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. i, doi. 10.1002/ajmg.c.31597
Publication type:: Article

CHARGEd with neural crest defects.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 478, doi. 10.1002/ajmg.c.31584

By:

Pauli, Silke;
Bajpai, Ruchi;
Borchers, Annette

Publication type:

Article

Reproductive endocrine phenotypes relating to CHD7 mutations in humans.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 507, doi. 10.1002/ajmg.c.31585

By:

Balasubramanian, Ravikumar;
Crowley, William F.

Publication type:

Article

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 496, doi. 10.1002/ajmg.c.31586

By:

Blake, Kim D.;
Hudson, Alexandra S.

Publication type:

Article

Behavior in CHARGE syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 431, doi. 10.1002/ajmg.c.31588

By:

Hartshorne, Timothy S.;
Stratton, Kasee K.;
Brown, David;
Madhavan‐Brown, Shanti;
Schmittel, Megan C.

Publication type:

Article

Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 407, doi. 10.1002/ajmg.c.31589

By:

Hefner, Margaret A.;
Fassi, Emily

Publication type:

Article

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 439, doi. 10.1002/ajmg.c.31587

By:

Choo, Daniel I.;
Tawfik, Kareem O.;
Martin, Donna M.;
Raphael, Yehoash

Publication type:

Article