Works matching IS 15524868 AND DT 2018 AND VI 178 AND IP 4

Results: 13

Cover Image, Volume 178, Number 4, December 2018.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. i, doi. 10.1002/ajmg.c.31674
Publication type:: Article

Hallermann–Streiff syndrome: A missing molecular link for a highly recognizable syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 398, doi. 10.1002/ajmg.c.31668

By:

Schmidt, Julia;
Wollnik, Bernd

Publication type:

Article

An update on oculocerebrocutaneous (Delleman‐Oorthuys) syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 414, doi. 10.1002/ajmg.c.31667

By:

Moog, Ute;
Dobyns, William B.

Publication type:

Article

Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 432, doi. 10.1002/ajmg.c.31666

By:

Aldinger, Kimberly A.;
Dempsey, Jennifer C.;
Tully, Hannah M.;
Grout, Megan E.;
Mehaffey, Michele G.;
Dobyns, William B.;
Doherty, Dan

Publication type:

Article

Unsolved recognizable patterns of human malformation: Challenges and opportunities.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 382, doi. 10.1002/ajmg.c.31665

By:

Boycott, Kym M.;
Dyment, David A.;
Innes, A. Micheil

Publication type:

Article

The etiology of VACTERL association: Current knowledge and hypotheses.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 440, doi. 10.1002/ajmg.c.31664

By:

Solomon, Benjamin D.

Publication type:

Article

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 458, doi. 10.1002/ajmg.c.31662

By:

Hartley, Taila;
Balcı, Tuğçe B.;
Rojas, Samantha K.;
Eaton, Alison;
Canada, Care4Rare;
Dyment, David A.;
Boycott, Kym M.

Publication type:

Article

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 387, doi. 10.1002/ajmg.c.31661

By:

Innes, A. Micheil;
McInnes, Brenda L.;
Dyment, David A.

Publication type:

Article

Nablus syndrome: Easy to diagnose yet difficult to solve.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 447, doi. 10.1002/ajmg.c.31660

By:

Allanson, Judith;
Smith, Amanda;
Forzano, Francesca;
Lin, Angela E.;
Raas‐Rothschild, Annick;
Howley, Heather E.;
Boycott, Kym M.

Publication type:

Article

PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 407, doi. 10.1002/ajmg.c.31659

By:

Siegel, Dawn H.

Publication type:

Article

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 423, doi. 10.1002/ajmg.c.31658

By:

Wong, Bibiana K. Y.;
Sutton, V. Reid

Publication type:

Article

Publication schedule for 2018.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 381, doi. 10.1002/ajmg.c.31582
Publication type:: Article

Table of Contents, Volume 178, Number 4, December 2018.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 379, doi. 10.1002/ajmg.c.31581
Publication type:: Article