E-LIB Suche - Ergebnisse für: Hanan AlQudairy

1

The phenotypic spectrum of PTCD3 deficiency:

Lace, Baiba ; Faqeih, Eissa ; Kaya, Namik...
JIMD Reports. , 2024

2

Expanding the phenotypic and genotypic spectrum of GGPS1 re..:

Altassan, Ruqaiah ; AlQudairy, Hanan ; AlJebreen, Sarah...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

3

Clinical, radiological, and genetic characterization of SLC..:

AlQudairy, Hanan ; AlDhalaan, Hesham ; AlRuways, Sarah...
Frontiers in Pediatrics. 10 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Detailed genetic and clinical analysis of a novel de novo v..:

AlBakheet, Albandary ; AlQudairy, Hanan ; Alkhalifah, Joud...
Frontiers in Genetics. 13 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

5

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consan..:

Aldosary, Mazhor ; Alsagob, Maysoon ; AlQudairy, Hanan...
Cells. 11 (2022) 19 - p. 3154 , 2022

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

6

Clinical, Radiological, and Genetic Characterization of a P..:

AlTassan, Ruqaiah ; AlQudairy, Hanan ; Alromayan, Rakan...
Genes. 13 (2022) 12 - p. 2252 , 2022

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

7

Genetic Causes, Clinical Manifestations and Diagnosis of Ce..:

Alomrani, Basmah ; Javed, Murid ; Mohammed Ali, Hani S. H....
Journal of Contemporary Medical Sciences. 8 (2022) 1 - p. , 2022

Link: https://doi.org/10.22317..

8

A Novel GEMIN4 Variant in a Consanguineous Family Leads to ..:

Aldhalaan, Hesham ; AlBakheet, Albandary ; AlRuways, Sarah...
Genes. 13 (2021) 1 - p. 92 , 2021

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

9

Phenotypic Variability of MEGF10 Variants Causing Congenita..:

AlMuhaizea, Mohammad ; Dabbagh, Omar ; AlQudairy, Hanan...
Genes. 12 (2021) 11 - p. 1783 , 2021

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

10

Table1_Clinical, radiological, and genetic characterization..:

Hanan AlQudairy ; Hesham AlDhalaan ; Sarah AlRuways...
doi:10.3389/fped.2022.1051534.s001. , 2023

Link: https://doi.org/10.3389/..

11

Table1_Detailed genetic and clinical analysis of a novel de..:

Albandary AlBakheet ; Hanan AlQudairy ; Joud Alkhalifah...
doi:10.3389/fgene.2022.1044936.s001. , 2023

Link: https://doi.org/10.3389/..

12

Clinical, radiological, and genetic characterization of SLC..:

Hanan AlQudairy ; Hesham AlDhalaan ; Sarah AlRuways...
https://www.frontiersin.org/articles/10.3389/fped.2022.1051534/full. , 2023

Link: https://doi.org/10.3389/..

13

Detailed genetic and clinical analysis of a novel de novo v..:

Albandary AlBakheet ; Hanan AlQudairy ; Joud Alkhalifah...
https://www.frontiersin.org/articles/10.3389/fgene.2022.1044936/full. , 2023

Link: https://doi.org/10.3389/..

14

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consan..:

Mazhor Aldosary ; Maysoon Alsagob ; Hanan AlQudairy...
Organelle Function. , 2022

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

15

Clinical, Radiological, and Genetic Characterization of a P..:

Ruqaiah AlTassan ; Hanan AlQudairy ; Rakan Alromayan...
Human Genomics and Genetic Diseases. , 2022

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