E-LIB Suche - Ergebnisse für: Al-Hamed Mohamed

1

Identification of compound heterozygous KCNJ1 mutations (en..:

Srivastava, Shalabh ; Li, Dimin ; Edwards, Noel...
Physiological Reports. 1 (2013) 6 - p. e00160 , 2013

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

2

A novel deletion of theMEN1gene in a large family of multip..:

Raef, Hussein ; Zou, Minjing ; Baitei, Essa Y....
Clinical Endocrinology. 75 (2011) 6 - p. 791-800 , 2011

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

3

Novel mutations underlying nephrogenic diabetes insipidus i..:

Carroll, Pamela ; Al-Mojalli, Hamad ; Al-Abbad, Abbas...
Genetics in Medicine. 8 (2006) 7 - p. 443-447 , 2006

Link: https://doi.org/10.1097/..

4

Frequency of common HFEvariants in the Saudi population: a ..:

Alsmadi, Osama A ; Al-Kayal, Fadi ; Al-Hamed, Mohamed.
BMC Medical Genetics. 7 (2006) 1 - p. , 2006

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

5

The role of cathepsin C in Papillon-Lefèvre syndrome, prepu..:

Hewitt, Chelsee ; McCormick, Derek ; Linden, Gerry...
Human Mutation. 23 (2004) 3 - p. 222-228 , 2004

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

6

Favorable Effects of Octreotide in Congenital Chloride Diar..:

Hussein, Maged H. ; Alsohaibani, Fahad ; Alrubaysh, Abdulaziz...
Kidney International Reports. 7 (2022) 9 - p. 2112-2115 , 2022

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

7

Phenotypic and Genotypic Characterization of Hereditary Ang..:

Sheikh, Farrukh ; Alajlan, Huda ; Albanyan, Maram...
Journal of Clinical Immunology. 43 (2022) 2 - p. 479-484 , 2022

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

8

Missense Variants in GFRA1 and NPNT Are Associated with Con..:

Al-Hamed, Mohamed H. ; Sayer, John A. ; Alsahan, Nada...
Genes. 13 (2022) 10 - p. 1687 , 2022

Link: https://doi.org/10.3390/..

9

Prenatal exome sequencing and chromosomal microarray analys..:

Al-Hamed, Mohamed H. ; Kurdi, Wesam ; Khan, Rubina...
Human Genetics. 141 (2021) 1 - p. 101-126 , 2021

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

10

Novel loss of function variants in FRAS1 AND FREM2 underlie..:

Al-Hamed, Mohamed H. ; Sayer, John A. ; Alsahan, Nada...
Journal of Nephrology. 34 (2020) 3 - p. 893-900 , 2020

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

11

Fetal Anomalies Associated with Novel Pathogenic Variants i..:

Al-Hamed, Mohamed H. ; Alsahan, Nada ; Tulbah, Maha...
Genes. 11 (2020) 9 - p. 967 , 2020

Link: https://doi.org/10.3390/..

12

Novel pathogenic MAPKBP1 variant in a family with nephronop..:

Al-Hamed, Mohamed H ; Alzaidan, Hamad ; Hussein, Maged...
Clinical Kidney Journal. 14 (2020) 2 - p. 728-730 , 2020

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

13

Spectrum of mutations underlying Propionic acidemia and fur..:

Al-Hamed, Mohamed H. ; Imtiaz, Faiqa ; Al-Hassnan, Zuhair...
Molecular Genetics and Metabolism Reports. 18 (2019) - p. 22-29 , 2019

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

14

Bialleleic PKD1 mutations underlie early-onset autosomal do..:

Al-Hamed, Mohamed H. ; Alsahan, Nada ; Rice, Sarah J....
Pediatric Nephrology. 34 (2019) 9 - p. 1615-1623 , 2019

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

15

Twenty novel mutations in BCKDHA , BCKDHB and DBT genes in ..:

Imtiaz, Faiqa ; Al-Mostafa, Abeer ; Allam, Rabab...
Molecular Genetics and Metabolism Reports. 11 (2017) - p. 17-23 , 2017

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