E-LIB Suche - Ergebnisse für: Alhassnan, Zuhair N.

1

Variable phenotype of a null PPP1R13L allele in children wi..:

Tulbah, Sahar ; Alruwaili, Nadiah ; Alhashem, Amal...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 59-63 , 2023

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

2

Exploring the role of Islam on the lived experience of pati..:

Bakur, Khadijah H. ; Al‐Aama, Jumana Y. ; Alhassnan, Zuhair N....
Journal of Genetic Counseling. 31 (2022) 4 - p. 922-936 , 2022

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

3

Clinical variability and outcome of succinyl‐CoA:3‐ketoacid..:

Alghamdi, Malak A. ; Tohary, Mohammed ; Alzaidan, Hamad..
JIMD Reports. 62 (2021) 1 - p. 91-96 , 2021

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

4

A novel homozygous SCN5A variant detected in sick sinus syn..:

Alkorashy, Maarab ; Al‐Ghamdi, Bandar ; Tulbah, Sahar...
Pacing and Clinical Electrophysiology. 44 (2020) 2 - p. 380-384 , 2020

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

5

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/..

6

The many faces of peroxisomal disorders: Lessons from a lar..:

Alshenaifi, Jumanah ; Ewida, Nour ; Anazi, Shams...
Clinical Genetics. 95 (2018) 2 - p. 310-319 , 2018

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

7

The Phenotype of a CASQ2 Mutation in a Saudi Family with Ca..:

AL‐HASSNAN, ZUHAIR N. ; TULBAH, SAHAR ; AL‐MANEA, WALEED.
Pacing and Clinical Electrophysiology. 36 (2012) 5 - p. , 2012

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

8

A novel interstitial microdeletion of 7q22.1‐7q22.3 detecte..:

Al‐Hassnan, Zuhair N. ; Al‐Bakheet, AlBandary ; Abu‐Dheim, Nada...
American Journal of Medical Genetics Part A. 155 (2011) 12 - p. 3128-3131 , 2011

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

9

Medium‐chain acyl‐CoA dehydrogenase deficiency in Saudi Ara..:

Al‐Hassnan, Zuhair N. ; Imtiaz, Faiqa ; Al‐Amoudi, Mohamed...
Journal of Inherited Metabolic Disease. 33 (2010) S3 - p. 263-267 , 2010

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

10

Allelic heterogeneity in inbred populations: The Saudi expe..:

Aldahmesh, Mohamed A. ; Abu‐Safieh, Leen ; Khan, Arif O....
American Journal of Medical Genetics Part A. 149A (2009) 4 - p. 662-665 , 2009

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

11

Craniofacial anomalies, humero‐radial synostosis, rhizomeli..:

Al‐Hassnan, Zuhair N. ; Teebi, Ahmad S.
American Journal of Medical Genetics Part A. 143A (2007) 6 - p. 521-527 , 2007

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

12

Biallelic variants in FLII cause pediatric cardiomyopathy b..:

Ruijmbeek, Claudine W.B. ; Housley, Filomena ; Idrees, Hafiza...
JCI Insight. 8 (2023) 17 - p. , 2023

Link: https://doi.org/10.1172/..

13

Hypomorphic GINS3 variants alter DNA replication and cause ..:

McQuaid, Mary E. ; Ahmed, Kashif ; Tran, Stephanie...
JCI Insight. 7 (2022) 10 - p. , 2022

Link: https://doi.org/10.1172/..

14

Association of Myocardial Muscle Non-Compaction and Multipl..:

AlFadley, Fadel ; Abdelbaky, Naheel ; Alhabdan, Mohammed...
Pediatric Cardiology. 43 (2022) 6 - p. 1373-1378 , 2022

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

15

Pulmonary arteriovenous malformation with unexplained cyano..:

Alakhfash, Ali ; Alqwaiee, Abdullah ; Almesned, Abdulrahman...
European Heart Journal - Case Reports. 5 (2021) 7 - p. , 2021

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