E-LIB Suche - Ergebnisse für: Elalaoui, Siham Chafai

1

A series of four patients with Sotos syndrome harboring nov..:

Amllal, Nada ; Zerkaoui, Maria ; Jdioui, Wafaa...
Molecular Biology Reports. 51 (2024) 1 - p. , 2024

2

Identification of Two Novel ANKRD11 Mutations: Highlighting..:

Amllal, Nada ; Elalaoui, Siham Chafai ; Zerkaoui, Maria...
Annals of Laboratory Medicine. 44 (2023) 1 - p. 110-117 , 2023

Link: https://doi.org/10.3343/..

3

Mutational spectrum of BRCA1/2 genes in Moroccan patients w..:

Elalaoui, Siham Chafai ; Laarabi, Fatima Zohra ; Afif, Lamiae...
Breast Cancer Research and Treatment. 194 (2022) 1 - p. 187-198 , 2022

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

4

Homozygous nonsense mutation of WTN10B gene in a Moroccan f..:

Elalaoui, Siham Chafai ; Fejjal, Nawfal ; Li, Yun...
Pan African Medical Journal. 39 (2021) - p. , 2021

Link: https://doi.org/10.11604..

5

Clinical, cytogenetic and molecular findings in nine Morocc..:

Doubaj, Yassamine ; Zrhidri, Abdelali ; Elalaoui, Siham Chafai...
Pan African Medical Journal. 39 (2021) - p. , 2021

Link: https://doi.org/10.11604..

6

Natural history of non-lethal Raine syndrome during childho..:

Mameli, Chiara ; Zichichi, Giulia ; Mahmood, Nasim...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

7

High frequency of the recurrent c.1310_1313delAAGA BRCA2 mu..:

Laarabi, Fatima-Zahra ; Ratbi, Ilham ; Elalaoui, Siham Chafai...
BMC Research Notes. 10 (2017) 1 - p. , 2017

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

8

De novo mutations in SMCHD1 cause Bosma arhinia microphthal..:

Gordon, Christopher T ; Xue, Shifeng ; Yigit, Gökhan...
Nature Genetics. 49 (2017) 2 - p. 249-255 , 2017

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

9

Insulin-like growth factor type 1 deficiency in a Moroccan ..:

Amasdl, Saadia ; Natiq, Abdelhafid ; Elalaoui, Siham Chafai...
Journal of Medical Case Reports. 10 (2016) 1 - p. , 2016

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

10

Further evidence of POP1 mutations as the cause of anauxeti..:

Elalaoui, Siham Chafai ; Laarabi, Fatima Zahra ; Mansouri, Maria...
American Journal of Medical Genetics Part A. 170 (2016) 9 - p. 2462-2465 , 2016

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

11

Non lethal Raine syndrome and differential diagnosis:

Elalaoui, Siham Chafai ; Al-Sheqaih, Nada ; Ratbi, Ilham...
European Journal of Medical Genetics. 59 (2016) 11 - p. 577-583 , 2016

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

12

Novel DDR2 mutation identified by whole exome sequencing in..:

Mansouri, Maria ; Kayserili, Hülya ; Elalaoui, Siham Chafai...
American Journal of Medical Genetics Part A. 170 (2015) 2 - p. 460-465 , 2015

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

13

Distribution of allelic and genotypic frequencies of NAT2 a..:

Guaoua, Soukaina ; Ratbi, Ilham ; Laarabi, Fatima Zahra...
BMC Genetics. 15 (2014) 1 - p. , 2014

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

14

Germline mosaicism in Rubinstein–Taybi syndrome:

Tajir, Mariam ; Fergelot, Patricia ; Lancelot, Guenaelle...
Gene. 518 (2013) 2 - p. 476-478 , 2013

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

15

Pyruvate dehydrogenase deficiency caused by a new mutation ..:

Tajir, Mariam ; Arnoux, Jean Baptiste ; Boutron, Audrey...
European Journal of Medical Genetics. 55 (2012) 10 - p. 535-540 , 2012

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