E-LIB Suche - Ergebnisse für: Al Ali, Mahmoud Taleb

1

Meta-analyses of the association of HLA-DRB1 alleles with r..:

Bizzari, Sami ; Nair, Pratibha ; Al Ali, Mahmoud Taleb.
International Journal of Rheumatic Diseases. 20 (2016) 7 - p. 832-838 , 2016

Link: https://doi.org/10.1111/..

2

Spectrum of genetic disorders and gene variants in the Unit..:

Bizzari, Sami ; Nair, Pratibha ; Hana, Sayeeda...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

A 20-year Clinical and Genetic Neuromuscular Cohort Analysi..:

Megarbane, Andre ; Bizzari, Sami ; Deepthi, Asha...
Journal of Neuromuscular Diseases. 9 (2022) 1 - p. 193-210 , 2022

Link: https://doi.org/10.3233/..

4

Catalogue for Transmission Genetics in Arabs (CTGA) Databas..:

Bizzari, Sami ; Nair, Pratibha ; Deepthi, Asha...
Genes. 12 (2021) 10 - p. 1518 , 2021

Link: https://doi.org/10.3390/..

5

Expanded PCH1D phenotype linked to EXOSC9 mutation:

Bizzari, Sami ; Hamzeh, Abdul Rezzak ; Mohamed, Madiha..
European Journal of Medical Genetics. 63 (2020) 1 - p. 103622 , 2020

Link: https://doi.org/10.1016/..

6

A novel PDE6D mutation in a patient with Joubert syndrome t..:

Mégarbané, André ; Hmaimess, Ghassan ; Bizzari, Sami...
European Journal of Medical Genetics. 62 (2019) 11 - p. 103576 , 2019

Link: https://doi.org/10.1016/..

7

Identification of a novel homozygous UNC80 variant in a chi..:

Obeid, Tasneem ; Hamzeh, Abdul Rezzak ; Saif, Fatima...
Metabolic Brain Disease. 33 (2018) 3 - p. 869-873 , 2018

Link: https://doi.org/10.1007/..

8

Identification of a novel CTCF mutation responsible for syn..:

Bastaki, Fatma ; Nair, Pratibha ; Mohamed, Madiha...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

9

A novel, putatively null, FGD1 variant leading to Aarskog-S..:

Hamzeh, Abdul Rezzak ; Saif, Fatima ; Nair, Pratibha...
BMC Pediatrics. 17 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

10

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 ..:

Hamzeh, Abdul Rezzak ; Nair, Pratibha ; Mohamed, Madiha...
Medical Principles and Practice. 26 (2017) 2 - p. 195-198 , 2017

Link: https://doi.org/10.1159/..

11

Erratum to: Novel ECHS1 mutation in an Emirati neonate with..:

Nair, Pratibha ; Hamzeh, Abdul Rezzak ; Mohamed, Madiha...
Metabolic Brain Disease. 31 (2016) 5 - p. 1193-1193 , 2016

Link: https://doi.org/10.1007/..

12

Genetics of multifactorial disorders: proceedings of the 6t..:

Nair, Pratibha ; Bizzari, Sami ; Rajah, Nirmal...
Journal of Translational Medicine. 14 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

13

A novel nonsense GPSM2 mutation in a Yemeni family underlyi..:

Hamzeh, Abdul Rezzak ; Nair, Pratibha ; Mohamed, Madiha...
European Journal of Medical Genetics. 59 (2016) 6-7 - p. 337-341 , 2016

Link: https://doi.org/10.1016/..

14

Novel ECHS1 mutation in an Emirati neonate with severe meta..:

Nair, Pratibha ; Hamzeh, Abdul Rezzak ; Mohamed, Madiha...
Metabolic Brain Disease. 31 (2016) 5 - p. 1189-1192 , 2016

Link: https://doi.org/10.1007/..

15

A novel SOX18 mutation uncovered in Jordanian patient with ..:

Bastaki, Fatma ; Mohamed, Madiha ; Nair, Pratibha...
Molecular and Cellular Probes. 30 (2016) 1 - p. 18-21 , 2016

Link: https://doi.org/10.1016/..