E-LIB Suche - Ergebnisse für: Hamamy, Hanan

1

Global developmental delay and intellectual disability in t..:

Masri, Amira T. ; Oweis, Liyana ; Ali, Majd.
Clinical Neurology and Neurosurgery. 230 (2023) - p. 107799 , 2023

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

2

Generation of three human induced pluripotent stem cell lin..:

Canac, Robin ; Caillaud, Amandine ; Cimarosti, Bastien...
Stem Cell Research. 58 (2022) - p. 102627 , 2022

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

3

INTS13 variants causing a recessive developmental ciliopath..:

Mascibroda, Lauren G. ; Shboul, Mohammad ; Elrod, Nathan D....
Nature Communications. 13 (2022) 1 - p. , 2022

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

4

Biallelic variants in TMEM222 cause a new autosomal recessi..:

Polla, Daniel L. ; Farazi Fard, Mohammad Ali ; Tabatabaei, Zahra...
Genetics in Medicine. 23 (2021) 7 - p. 1246-1254 , 2021

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

5

Human model of IRX5 mutations reveals key role for this tra..:

Al Sayed, Zeina R ; Canac, Robin ; Cimarosti, Bastien...
Cardiovascular Research. 117 (2020) 9 - p. 2092-2107 , 2020

Link: https://doi.org/10.1093/..

6

Congenital insensitivity to pain with anhidrosis syndrome: ..:

Masri, Amira ; Shboul, Mohammad ; Khasawneh, Aisha...
Clinical Neurology and Neurosurgery. 189 (2020) - p. 105636 , 2020

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

7

Cover Image, Volume 40, Issue 3:

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios...
Human Mutation. 40 (2019) 3 - p. i-i , 2019

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

8

Rare single gene disorders: estimating baseline prevalence ..:

Congenital Disorders Expert Group ; Blencowe, Hannah ; Moorthie, Sowmiya...
Journal of Community Genetics. 9 (2018) 4 - p. 397-406 , 2018

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

9

Biallelic variants in KIF14 cause intellectual disability w..:

Makrythanasis, Periklis ; Maroofian, Reza ; Stray-Pedersen, Asbjørg...
European Journal of Human Genetics. 26 (2018) 3 - p. 330-339 , 2018

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

10

Biallelic loss of function variants inPPP1R21cause a neurod..:

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios...
Human Mutation. , 2018

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

11

Exome sequencing discloses KALRN homozygous variant as like..:

Makrythanasis, Periklis ; Guipponi, Michel ; Santoni, Federico A....
Human Genomics. 10 (2016) 1 - p. , 2016

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

12

ASSESSMENT OF KNOWLEDGE, ATTITUDE AND PRACTICE TOWARDS CONS..:

Alnaqeb, Dhekra ; Hamamy, Hanan ; Youssef, Amira M..
Journal of Biosocial Science. 50 (2016) 1 - p. 1-18 , 2016

Link: https://doi.org/10.1017/..

13

E-learning for research capacity strengthening in sexual an..:

Abawi, Karim ; Chandra-Mouli, Venkatraman ; Toskin, Igor...
Human Resources for Health. 14 (2016) 1 - p. , 2016

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

14

List of Contributors:

, In: Genomics and Society,

Alwan, Sura ; Bishop, Michelle ; Buchanan, James... - p. xiii-xv , 2016

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

15

The Sociodemographic and Economic Correlates of Consanguine..:

, In: Genomics and Society,

Hamamy, Hanan ; Alwan, Sura - p. 335-361 , 2016

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