E-LIB Suche - Ergebnisse für: Adila Al-Kindi

1

Homozygous loss-of-function variants in FILIP1 cause autoso..:

Schnabel, Franziska ; Schuler, Elisabeth ; Al-Maawali, Almundher...
Human Genetics. 142 (2023) 4 - p. 543-552 , 2023

2

Biallelic loss-of-function variants of GFRA1 cause lethal b..:

Al-Shamsi, Bushra ; Al-Kasbi, Ghalia ; Al-Kindi, Adila...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104376 , 2022

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

3

The diagnostic yield, candidate genes, and pitfalls for a g..:

Al-Kasbi, Ghalia ; Al-Murshedi, Fathiya ; Al-Kindi, Adila...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

4

The diagnostic yield, candidate genes, and pitfalls for a g..:

Ghalia Al-Kasbi ; Fathiya Al-Murshedi ; Adila Al-Kindi...
https://doi.org/10.1038/s41598-022-22036-z. , 2022

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

5

Recessive mutations in SCYL2 cause a novel syndromic form o..:

Seidahmed, Mohammed Zain ; Al-Kindi, Adila ; Alsaif, Hessa S....
Human Genetics. 139 (2020) 4 - p. 513-519 , 2020

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

6

A novel POC1A variant in an alternatively spliced exon caus..:

Al-Kindi, Adila ; Al-Shehhi, Maryam ; Westenberger, Ana...
Journal of Human Genetics. 65 (2019) 2 - p. 193-197 , 2019

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

7

A novel mutation in DDR2 causing spondylo-meta-epiphyseal d..:

Al-Kindi, Adila ; Kizhakkedath, Praseetha ; Xu, Huifang...
BMC Medical Genetics. 15 (2014) 1 - p. , 2014

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

8

New Ocular Associations in Sanjad-Sakati Syndrome : Case re..:

Agha S. Haider ; Anuradha Ganesh ; Adila Al-Kindi...
https://journals.squ.edu.om/index.php/squmj/article/view/1942. , 2014

Link: https://doaj.org/article..

9

New Ocular Associations in Sanjad-Sakati Syndrome; Case rep..:

Agha S. Haider ; Anuradha Ganesh ; Adila Al-Kindi...
http://web.squ.edu.om/squmj/includes/tng/pub/tNG_download.asp?id=2860ac93ac16868c80ac608a476990c9. , 2014

Link: https://doaj.org/article..

10

The Phenotypic Spectrum of Baraitser-Winter Syndrome: A New..:

Ganesh, Anuradha ; Al-Kindi, Adila ; Jain, Rajeev.
Journal of American Association for Pediatric Ophthalmology and Strabismus. 9 (2005) 6 - p. 604-606 , 2005

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

11

Homozygous loss-of-function variants in FILIP1 cause autoso..:

Schnabel, Franziska ; Schuler, Elisabeth ; Al-Maawali, Almundher...
EXC 2067: Multiscale Bioimaging. , 2023

Link: https://resolver.sub.uni..

12

Homozygous loss-of-function variants in FILIP1 cause autoso..:

Schnabel, Franziska ; Schuler, Elisabeth ; Al-Maawali, Almundher...
https://research.manchester.ac.uk/en/publications/ab156f9e-c48a-4dde-852a-fd81058f5e49. , 2023

Link: https://research.manches..

13

A novel mutation in DDR2 causing spondylo-meta-epiphyseal d..:

Al-Kindi, Adila ; Kizhakkedath, Praseetha ; Xu, Huifang...
http://www.biomedcentral.com/1471-2350/15/42. , 2014

Link: http://www.biomedcentral..

14

Brucella Species Infection of Ventricular-peritoneal Shunt:..:

Nawal A Al-Kindi ; Aisha A Al-Bulushi ; Qasim S Al-Hinai...
International Journal of Innovative Research in Medical Science. 6 (2021) 2 - p. 123-128 , 2021

Link: https://doi.org/10.23958..

15

Occurrence of Micro-Plastics in Tigris River Water in Middl..:

Safaa Al-Azzawi, Ahmed ; Yaseen Al-Kindi, Ghayda ; Al Rifaie, Jawad K
IOP Conference Series: Earth and Environmental Science. 1374 (2024) 1 - p. 012060 , 2024

Link: https://doi.org/10.1088/..