Works matching AU Froukh, Tawfiq

Results: 9

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Published in:

2017

By:

Reuter, Miriam S.;
Tawamie, Hasan;
Buchert, Rebecca;
Gebril, Ola Hosny;
Froukh, Tawfiq;
Thiel, Christian;
Uebe, Steffen;
Ekici, Arif B.;
Krumbiegel, Mandy;
Zweier, Christiane;
Hoyer, Juliane;
Eberlein, Karolin;
Bauer, Judith;
Scheller, Ute;
Strom, Tim M.;
Hoffjan, Sabine;
Abdelraouf, Ehab R.;
Meguid, Nagwa A.;
Abboud, Ahmad;
Al Khateeb, Mohammed Ayman

Publication type:

journal article

First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan.

Published in:

BioMed Research International, 2019, p. 1, doi. 10.1155/2019/7235914

By:

Froukh, Tawfiq

Publication type:

Article

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.

Published in:

Clinical Genetics, 2021, v. 100, n. 4, p. 453, doi. 10.1111/cge.14016

By:

Rapp, Christina K.;
Van Dijck, Ine;
Laugwitz, Lucia;
Boon, Mieke;
Briassoulis, George;
Ilia, Stavroula;
Kammer, Birgit;
Reu, Simone;
Hornung, Stefanie;
Buchert, Rebecca;
Sofan, Linda;
Froukh, Tawfiq;
Witters, Peter;
Rymen, Daisy;
Haack, Tobias B.;
Proesmans, Marijke;
Griese, Matthias

Publication type:

Article

Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype.

Published in:

Clinical Genetics, 2020, v. 98, n. 5, p. 493, doi. 10.1111/cge.13827

By:

Knuutinen, Oula;
Pyle, Angela;
Suo‐Palosaari, Maria;
Duff, Jennifer;
Froukh, Tawfiq;
Lehesjoki, Anna‐Elina;
Kangas, Salla M.;
Cassidy, James;
Maraqa, Latifa;
Keski‐Filppula, Riikka;
Kokkonen, Hannaleena;
Uusimaa, Johanna;
Horvath, Rita;
Vieira, Päivi

Publication type:

Article

Genetic basis of neurodevelopmental disorders in 103 Jordanian families.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 621, doi. 10.1111/cge.13720

By:

Froukh, Tawfiq;
Nafie, Omar;
Al Hait, Sana' A. S.;
Laugwitz, Lucia;
Sommerfeld, Julia;
Sturm, Marc;
Baraghiti, Aya;
Issa, Tala;
Al‐Nazer, Anis;
Koch, Philipp A.;
Hanselmann, Johannes;
Kootz, Beate;
Bauer, Peter;
Al‐Ameri, Wael;
Abou Jamra, Rami;
Alfrook, Ayman J.;
Hamadallah, Moath;
Sofan, Linda;
Riess, Angelika;
Haack, Tobias B.

Publication type:

Article

Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01112-z

By:

Froukh, Tawfiq;
Hawwari, Ammar;
Al Zubi, Khalid

Publication type:

Article

Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan.

Published in:

Tohoku Journal of Experimental Medicine, 2017, v. 243, n. 4, p. 297, doi. 10.1620/tjem.243.297

By:

Froukh, Tawfiq Jamal

Publication type:

Article

Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene.

Published in:

Pakistan Journal of Medical Sciences, 2019, v. 35, n. 6, p. 1736, doi. 10.12669/pjms.35.6.1181

By:

Froukh, Tawfiq

Publication type:

Article

Genetic population structure of the endemic fourline wrasse ( Larabicus quadrilineatus) suggests limited larval dispersal distances in the Red Sea.

Published in:

Molecular Ecology, 2007, v. 16, n. 7, p. 1359, doi. 10.1111/j.1365-294X.2007.03236.x

By:

FROUKH, TAWFIQ;
KOCHZIUS, MARC

Publication type:

Article