E-LIB Suche - Ergebnisse für: Abdelhamid, Mohamed S.

1

The clinical and genetic landscape of developmental and epi..:

Elkhateeb, Nour ; Issa, Mahmoud Y. ; Elbendary, Hasnaa M....
Clinical Genetics. 105 (2024) 5 - p. 510-522 , 2024

2

CHST3‐related skeletal dysplasia in 14 patients: Identifica..:

Otaify, Ghada A. ; Elhossini, Rasha M. ; Abdel‐Ghafar, Sherif F....
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2100-2112 , 2023

Link: https://doi.org/10.1002/..

3

A founder PPIL1 variant underlies a recognizable form of mi..:

Abdel‐Salam, Ghada M. H. ; Abdel‐Hamid, Mohamed S.
Clinical Genetics. 104 (2023) 3 - p. 356-364 , 2023

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

4

A recurrent KCNK4 variant in a dominant pedigree with hyper..:

Elhossini, Rasha M. ; Sayed, Inas M. ; Hellal, Usama Saad...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 39-45 , 2023

Link: https://doi.org/10.1002/..

5

Clinical and molecular spectrum of a large Egyptian cohort ..:

Zaki, Maha S. ; Sharaf‐Eldin, Wessam E. ; Rafat, Karima...
Clinical Genetics. 104 (2023) 2 - p. 238-244 , 2023

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

6

Refining the phenotypic spectrum of CCDC88A‐related PEHO‐li..:

Issa, Mahmoud Y. ; Hafez, Mona A. ; Mounir, Samir M....
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 226-232 , 2023

Link: https://doi.org/10.1002/..

7

Delineating the phenotype of PNPLA8‐related mitochondriopat..:

Abdel‐Hamid, Mohamed S. ; Abdel‐Salam, Ghada M. H. ; Abdel‐Ghafar, Sherif F..
Clinical Genetics. 105 (2023) 1 - p. 92-98 , 2023

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

8

Two new patients with focal dermal hypoplasia: A novel PORC..:

Elhossini, Rasha Moheb ; Abdel‐Hamid, Mohamed S. ; Ashaat, Engy...
Congenital Anomalies. 62 (2022) 2 - p. 68-77 , 2022

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

9

Bruck syndrome in 13 new patients: Identification of five n..:

Otaify, Ghada A. ; Abdel‐Hamid, Mohamed S. ; Hassib, Nehal F....
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1815-1825 , 2022

Link: https://doi.org/10.1002/..

10

Expanding the phenotypic and allelic spectrum of SMG8: Clin..:

Abdel‐Salam, Ghada M. H. ; Duan, Ruizhi ; Abdel‐Hamid, Mohamed S....
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 648-657 , 2021

Link: https://doi.org/10.1002/..

11

Micro and Martsolf syndromes in 34 new patients: Refining t..:

Abdel‐Hamid, Mohamed S. ; Abdel‐Ghafar, Sherif F. ; Ismail, Suzan R....
Clinical Genetics. 98 (2020) 5 - p. 445-456 , 2020

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

12

Raine syndrome: Prenatal diagnosis based on recognizable fe..:

El‐Dessouky, Sara H. ; Abdel‐Hamid, Mohamed S. ; Abdel‐Ghafar, Sherif F....
Prenatal Diagnosis. 40 (2020) 12 - p. 1578-1597 , 2020

Link: https://doi.org/10.1002/..

13

ASAH1‐related disorders: Description of 15 novel pediatric ..:

Mahmoud, Iman G. ; Elmonem, Mohamed A. ; Zaki, Maha S....
Clinical Genetics. 98 (2020) 6 - p. 598-605 , 2020

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

14

KBG syndrome in two patients from Egypt:

Sayed, Inas S. M. ; Abdel‐Hamid, Mohamed S. ; Abdel‐Salam, Ghada M.H.
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1309-1312 , 2020

Link: https://doi.org/10.1002/..

15

Microcephalic osteodysplastic primordial dwarfism type II: ..:

Abdel‐Salam, Ghada M. H. ; Sayed, Inas S. M. ; Afifi, Hanan H....
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1407-1420 , 2020

Link: https://doi.org/10.1002/..