Works matching IS 16618769 AND DT 2020 AND VI 11 AND IP 5/6

Results: 12

A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 315, doi. 10.1159/000510994

By:

Turkyilmaz, Ayberk;
Sager, Gunes

Publication type:

Article

Chromothripsis and Duplications as Underappreciated Genomic Gremlins.

Published in:

2020

By:

Poot, Martin

Publication type:

Editorial

Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 302, doi. 10.1159/000510481

By:

Taylan Sekeroglu, Hande;
Karaosmanoglu, Beren;
Taskiran, Ekim Z.;
Simsek Kiper, Pelin O.;
Alikasifoglu, Mehmet;
Boduroglu, Koray;
Coskun, Turgay;
Utine, Gulen Eda

Publication type:

Article

Front & Back Matter.

Published in:: Molecular Syndromology, 2020, v. 11, n. 5/6, p. 1, doi. 10.1159/000513874
Publication type:: Article

Contents Vol. 11, 2020.

Published in:: Molecular Syndromology, 2020, v. 11, n. 5/6, p. I, doi. 10.1159/000513765
Publication type:: Article

Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 309, doi. 10.1159/000510480

By:

Arora, Veronica;
Bijarnia-Mahay, Sunita;
Dubey, Sudhisha;
Saxena, Renu

Publication type:

Article

Language Impairment with a Partial Duplication of DOCK8.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 243, doi. 10.1159/000511972

By:

Benítez-Burraco, Antonio;
Fernández-Urquiza, Maite;
Jiménez-Romero, Mª Salud

Publication type:

Article

Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 296, doi. 10.1159/000511609

By:

Ayyildiz Emecen, Durdugul;
Isik, Esra;
Utine, Gulen E.;
Simsek-Kiper, Pelin O.;
Atik, Tahir;
Ozkinay, Ferda

Publication type:

Article

A Case of UDP-Galactose 4′-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 320, doi. 10.1159/000511343

By:

Febres-Aldana, Christopher A.;
Pelaez, Liset;
Wright, Meredith S.;
Maher, Ossama M.;
Febres-Aldana, Anthony J.;
Sasaki, Jun;
Jayakar, Parul;
Jayakar, Anuj;
Diaz-Barbosa, Magaly;
Janvier, Michelin;
Totapally, Bala;
Salyakina, Daria;
Galvez-Silva, Jorge R.

Publication type:

Article

Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 271, doi. 10.1159/000510910

By:

Moreno, Olga M.;
Sánchez, Ana I.;
Herreño, Angélica;
Giraldo, Gustavo;
Suárez, Fernando;
Prieto, Juan Carlos;
Clavijo, Ana Shaia;
Olaya, Mercedes;
Vargas, Yaris;
Benítez, Javier;
Surallés, Jordi;
Rojas, Adriana

Publication type:

Article

Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 284, doi. 10.1159/000510428

By:

Hussen, Dalia F.;
Kamel, Alaa K.;
Mekkawy, Mona K.;
Ashaat, Engy A.;
El Ruby, Mona O.

Publication type:

Article

A Deep Intronic Variant Activates a Pseudoexon in the MTM1Gene in a Family with X-Linked Myotubular Myopathy.

Published in:

Molecular Syndromology, 2020, v. 11, n. 5/6, p. 264, doi. 10.1159/000510286

By:

Fitzgerald, Jamie;
Feist, Cori;
Dietz, Paula;
Moore, Stephen;
Basel, Donald

Publication type:

Article