Works matching IS 16618769 AND DT 2017 AND VI 8 AND IP 4

Results: 9

Cantú Syndrome Associated with Ovarian Agenesis.

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 206, doi. 10.1159/000471247

By:

Fryssira, Helena;
Psoni, Stavroula;
Amenta, Styliani;
Tsoutsou, Eirini;
Sofocleous, Christalena;
Manolakos, Emmanouil;
Gavra, Maria;
Lüdecke, Hermann-Joseph;
Czeschik, Johanna-Christina

Publication type:

Article

Severe Neurological Phenotype in a Girl with Xp22.31 Triplication.

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 219, doi. 10.1159/000475795

By:

Polo-Antúnez, Antonio;
Arroyo-Carrera, Ignacio

Publication type:

Article

A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 211, doi. 10.1159/000473693

By:

Baxter, Adrianne L.;
Vivian, Jay L.;
Hagelstrom, R. Tanner;
Hossain, Waheeda;
Golden, Wendy L.;
Wassman, E. Robert;
Vanzo, Rena J.;
Butler, Merlin G.

Publication type:

Article

ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 201, doi. 10.1159/000470025

By:

de Araujo, Tânia Kawasaki;
Lustosa-Mendes, Elaine;
dos Santos, Ana P.;
Molck, Miriam Coelho;
Volpe-Aquino, Roberta Mazzariol;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 195, doi. 10.1159/000476020

By:

Jalilian, Nazanin;
Tabatabaiefar, Mohammad A.;
Bahrami, Tayyeb;
Karbasi, Golaleh;
Bahramian, Mohammad H.;
Salimpoor, Abdolrahman;
Noori-Daloii, Mohammad R.

Publication type:

Article

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 187, doi. 10.1159/000477084

By:

Simioni, Milena;
Artiguenave, François;
Meyer, Vincent;
Sgardioli, Ilária C.;
Viguetti-Campos, Nilma L.;
Monlleó, Isabella Lopes;
Maciel-Guerra, Andréa T.;
Steiner, Carlos E.;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 179, doi. 10.1159/000471992

By:

Patel, Rashmi;
Zenith, Ravish K.;
Chandra, Abhishek;
Ali, Akhtar

Publication type:

Article

The Age of the Father.

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 169, doi. 10.1159/000471776

By:

Poot, Martin

Publication type:

Article

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.

Published in:

Molecular Syndromology, 2017, v. 8, n. 4, p. 172, doi. 10.1159/000472408

By:

De Maria, Beatrice;
de Jager, Tresia;
Sarubbi, Caitlin;
Bartsch, Oliver;
Bianchi, Alberto;
Brancati, Francesco;
Chung, Hon-Yin B.;
David, Albert;
Kariminejad, Ariana;
Foresti, Maura;
Gallottini, Marina;
Isidor, Bertrand;
Marchegiani, Shannon;
Martins, Fabiana;
Mazzanti, Laura;
Roche, Nathalie;
Singh, Ankur;
Stevens, Cathy;
Kenichi Suga;
Zenker, Martin

Publication type:

Article