E-LIB Suche - Ergebnisse für: Al‐Maawali, Almundher

1

Expanding the spectrum of EEF1D neurodevelopmental disorder..:

Averdunk, Luisa ; Al‐Thihli, Khalid ; Surowy, Harald...
Clinical Genetics. 103 (2023) 4 - p. 484-491 , 2023

2

Biallelic variants of the first Kunitz domain of SPINT2 cau..:

Al Rawahi, Yusriya ; Al Sunaidi, Omar ; Al‐Masqari, Mohammed...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

3

Further phenotypic delineation of Alazami syndrome:

Al‐Hinai, Abdulhamid ; Al‐Hashmi, Samiya ; Ganesh, Anuradha...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2485-2490 , 2022

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

4

Novel mutation in interleukin 1 receptor antagonist associa..:

Abdwani, Reem ; Abdalla, Eiman ; Al Masilhi, Buthaina..
Journal of Paediatrics and Child Health. 58 (2021) 1 - p. 186-188 , 2021

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

5

Biallelic PTRHD1 Frameshift Variants Associated with Intell..:

Al‐Kasbi, Ghalia ; Al‐Saegh, Abeer ; Al‐Qassabi, Ahmed...
Movement Disorders Clinical Practice. 8 (2021) 8 - p. 1253-1257 , 2021

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

6

Deficiency of acyl‐CoA synthetase 5 is associated with a se..:

Al‐Thihli, Khalid ; Afting, Cassian ; Al‐Hashmi, Nadia...
Clinical Genetics. 99 (2020) 3 - p. 376-383 , 2020

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

7

Variability of non‐lethal Fowler syndrome phenotype associa..:

Al‐Murshedi, Fathiya ; Mirza, Hassan ; Al‐Saegh, Abeer...
Clinical Genetics. 98 (2020) 5 - p. 520-521 , 2020

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

8

Missense mutations in SLC25A1 are associated with congenita..:

Al‐Futaisi, Amna ; Ahmad, Faraz ; Al‐Kasbi, Ghalia...
Clinical Genetics. 97 (2019) 4 - p. 666-667 , 2019

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

9

Phenotypic spectrum of ALPK3‐related cardiomyopathy:

Al Senaidi, Khalfan ; Joshi, Niranjan ; Al‐Nabhani, Maryam...
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1235-1240 , 2019

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

10

Further delineation of Temtamy syndrome of corpus callosum ..:

Alrakaf, Laila ; Al‐Owain, Mohammed A. ; Busehail, Maryam...
American Journal of Medical Genetics Part A. 176 (2018) 3 - p. 715-721 , 2018

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

11

Reanalysis of exome sequencing data of intellectual disabil..:

Al‐Nabhani, Maryam ; Al‐Rashdi, Samiya ; Al‐Murshedi, Fathiya...
Clinical Genetics. 94 (2018) 6 - p. 495-501 , 2018

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

12

Novel loss‐of‐function variants in DIAPH1 associated with s..:

Al‐Maawali, Almundher ; Barry, Brenda J. ; Rajab, Anna...
American Journal of Medical Genetics Part A. 170 (2015) 2 - p. 435-440 , 2015

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

13

Prospective study of activities of daily living outcomes in..:

Al‐Maawali, Almundher ; Blaser, Susan ; Zhao, Xiu Y.
Developmental Medicine & Child Neurology. 56 (2013) 5 - p. 460-467 , 2013

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

14

Clinical characteristics in patients with interstitial dele..:

Al‐Maawali, Almundher ; Marshall, Christian R. ; Scherer, Stephen W....
American Journal of Medical Genetics Part A. 164 (2013) 3 - p. 796-800 , 2013

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

15

XY sex reversal, pontocerebellar hypoplasia and intellectua..:

Siriwardena, Komudi ; Al‐Maawali, Almundher ; Guerin, Andrea..
American Journal of Medical Genetics Part A. 161 (2013) 7 - p. 1714-1717 , 2013

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