E-LIB Suche - Ergebnisse für: Al Murshedi, Fathiya

1

Facilitating intrafamily communication to enable earlier di..:

Germain, Dominique P. ; Al Murshedi, Fathiya ; Al Jasmi, Fatma...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107838 , 2024

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

2

Uptake of prenatal genetic diagnosis and termination of pre..:

Bruwer, Zandré ; Al Ubaidani, Salwa ; Al Kharusi, Khalsa...
Journal of Community Genetics. 13 (2022) 3 - p. 303-311 , 2022

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

3

Hypoketotic hypoglycemia without neuromuscular complication..:

Al Shamsi, Bushra ; Al Murshedi, Fathiya ; Al Habsi, Asila.
European Journal of Human Genetics. 30 (2021) 8 - p. 976-979 , 2021

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

4

Pathogenic STX3 variants affecting the retinal and intestin..:

Janecke, Andreas R. ; Liu, Xiaoqin ; Adam, Rüdiger...
Human Genetics. 140 (2021) 8 - p. 1143-1156 , 2021

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

5

CNP deficiency causes severe hypomyelinating leukodystrophy..:

Al-Abdi, Lama ; Al Murshedi, Fathiya ; Elmanzalawy, Alaa...
Human Genetics. 139 (2020) 5 - p. 615-622 , 2020

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

6

Loss of UGP2 in brain leads to a severe epileptic encephalo..:

Perenthaler, Elena ; Nikoncuk, Anita ; Yousefi, Soheil...
Acta Neuropathologica. 139 (2019) 3 - p. 415-442 , 2019

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

7

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/..

8

Expanding the genetic heterogeneity of intellectual disabil..:

Anazi, Shams ; Maddirevula, Sateesh ; Salpietro, Vincenzo...
Human Genetics. 136 (2017) 11-12 - p. 1419-1429 , 2017

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

9

Correction to: Expanding the genetic heterogeneity of intel..:

Anazi, Shams ; Maddirevula, Sateesh ; Salpietro, Vincenzo...
Human Genetics. 137 (2017) 1 - p. 105-109 , 2017

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

10

Guidelines for acute management of hyperammonemia in the Mi..:

Alfadhel, Majid ; Al Mutairi, Fuad ; Makhseed, Nawal...
Therapeutics and Clinical Risk Management. , 2016

Link: https://doi.org/10.2147/..

11

Child With Congenital Generalized Lipodystrophy Type 4 for ..:

Al Aamri, Is'haq ; Nagathan, Swaroopa Deepak ; Al-Abri, Ismail Abdullah..
Journal of Cardiothoracic and Vascular Anesthesia. 36 (2022) 11 - p. 4228-4229 , 2022

Link: https://doi.org/10.1053/..

12

Pathogenic STX3 variants affecting the retinal and intestin..:

Janecke, Andreas R ; Liu, Xiaoqin ; Adam, Rüdiger...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8263458/. , 2021

Link: http://www.ncbi.nlm.nih...

13

Hypoketotic hypoglycemia without neuromuscular complication..:

Al Shamsi, Bushra ; Al Murshedi, Fathiya ; Al Habsi, Asila.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9349259/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Applying whole exome sequencing in a consanguineous populat..:

Al-Mamari, Watfa ; Idris, Ahmed B ; Al-Thihli, Khalid...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10071987/. , 2021

Link: http://www.ncbi.nlm.nih...

15

Pathogenic STX3 variants affecting the retinal and intestin..:

Janecke, Andreas R ; Liu, Xiaoqin ; Adam, Rüdiger...
Janecke , A R , Liu , X , Adam , R , Punuru , S , Viestenz , A , Strauß , V , Laass , M , Sanchez , E , Adachi , R , Schatz , M P , Saboo , U S , Mittal , N , Rohrschneider , K , Escher , J , Ganesh , A , Al Zuhaibi , S , Al Murshedi , F , AlSaleem , B , Alfadhel , M , Al Sinani , S , Alkuraya , F S , Huber , L A , Müller , T , Heidelberger , R & Janz , R 2021 , ' Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects ' , Human Genetics , vol. 140 , no. 8 , pp. 1143-1156 . https://doi.org/10.1007/s00439-021-02284-1. , 2021

Link: https://pure.eur.nl/en/p..