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1.
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
BMC Nephrol
; 25(1): 139, 2024 Apr 22.
Article
in English
| MEDLINE | ID: mdl-38649831
2.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Brain
; 145(3): 909-924, 2022 04 29.
Article
in English
| MEDLINE | ID: mdl-34605855
3.
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
J Transl Med
; 20(1): 502, 2022 11 03.
Article
in English
| MEDLINE | ID: mdl-36329474
4.
Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era.
J Transl Med
; 19(1): 137, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33794915
5.
Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.
Metabolites
; 14(3)2024 Mar 04.
Article
in English
| MEDLINE | ID: mdl-38535312
6.
Burden of Mendelian disorders in a large Middle Eastern biobank.
Genome Med
; 16(1): 46, 2024 Apr 08.
Article
in English
| MEDLINE | ID: mdl-38584274
7.
A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.
Genes (Basel)
; 14(4)2023 03 31.
Article
in English
| MEDLINE | ID: mdl-37107607
8.
Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Article
in English
| MEDLINE | ID: mdl-34815247
9.
PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.
Cells
; 9(8)2020 07 27.
Article
in English
| MEDLINE | ID: mdl-32726939
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