E-LIB Suche - Ergebnisse für: Afifi, Hanan H.

1

Importance of TREC and KREC as molecular markers for immuno..:

Eissa, Eman ; Afifi, Hanan H. ; Abo-Shanab, Assem M....
Scientific Reports. 13 (2023) 1 - p. , 2023

2

Expanding the phenotypic spectrum and clinical severity ass..:

Abdel-Salam, Ghada M. H. ; Afifi, Hanan H. ; Abdel-Hamid, Mohamed S....
Journal of Human Genetics. 68 (2023) 9 - p. 607-613 , 2023

Link: https://doi.org/10.1038/..

3

Chromosome 9p terminal deletion in nine Egyptian patients a..:

Mohamed, Amal M. ; Kamel, Alaa K. ; Eid, Maha M....
Molecular Genetics & Genomic Medicine. 9 (2021) 11 - p. , 2021

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

4

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/..

5

Lenz–Majewski syndrome in a patient from Egypt:

Afifi, Hanan H. ; Abdel‐Hamid, Mohamed S. ; Mehrez, Mennat I...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2039-2042 , 2019

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

6

Magnetic resonance imaging of developmental facial paresis:..:

Mohammad, Shaimaa Abdelsattar ; Abdelaziz, Tougan Taha ; Gadelhak, Mohamed I...
Neuroradiology. 60 (2018) 10 - p. 1053-1061 , 2018

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

7

Identification of a novel homozygous ALX4 mutation in two u..:

El‐Ruby, Mona ; El‐Din Fayez, Alaa ; El‐Dessouky, Sara H....
American Journal of Medical Genetics Part A. 176 (2018) 5 - p. 1190-1194 , 2018

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

8

Phenotypic and molecular insights into PQBP1‐related intell..:

Abdel‐Salam, Ghada M. H. ; Miyake, Noriko ; Abdel‐Hamid, Mohamed S....
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2446-2450 , 2018

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

9

Lipoid proteinosis: A clinical and molecular study in Egypt..:

Afifi, Hanan H. ; Amr, Khalda S. ; Tosson, Angie M.S....
Gene. 628 (2017) - p. 308-314 , 2017

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

10

Expanding the mutation and clinical spectrum of Roberts syn..:

Afifi, Hanan H. ; Abdel‐Salam, Ghada M.H. ; Eid, Maha M....
Congenital Anomalies. 56 (2016) 4 - p. 154-162 , 2016

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

11

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloi..:

Afifi, Hanan H. ; Abdel‐Hamid, Mohamed S. ; Eid, Maha M...
Pediatric Dermatology. 33 (2016) 2 - p. , 2016

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

12

Clinical features of SMARCA2 duplication overlap with Coffi..:

Miyake, Noriko ; Abdel‐Salam, Ghada ; Yamagata, Takanori...
American Journal of Medical Genetics Part A. 170 (2016) 10 - p. 2662-2670 , 2016

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

13

Mutation in WDR4 impairs tRNA m7G46 methylation and causes ..:

Shaheen, Ranad ; Abdel-Salam, Ghada M H ; Guy, Michael P....
Genome Biology. 16 (2015) 1 - p. , 2015

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

14

De Novo 17q24.2–q24.3 microdeletion presenting with general..:

Afifi, Hanan H. ; Fukai, Ryoko ; Miyake, Noriko...
American Journal of Medical Genetics Part A. 167 (2015) 10 - p. 2418-2424 , 2015

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

15

The supposed tumor suppressor gene WWOX is mutated in an ea..:

Abdel-Salam, Ghada ; Thoenes, Michaela ; Afifi, Hanan H...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. , 2014

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