Search details
1.
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Am J Hum Genet
; 110(9): 1470-1481, 2023 09 07.
Article
in English
| MEDLINE | ID: mdl-37582359
2.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Article
in English
| MEDLINE | ID: mdl-37963460
3.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain
; 147(5): 1751-1767, 2024 May 03.
Article
in English
| MEDLINE | ID: mdl-38128568
4.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Article
in English
| MEDLINE | ID: mdl-38527963
5.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-38141063
6.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
; 147(4): 1436-1456, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-37951597
7.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Article
in English
| MEDLINE | ID: mdl-33308444
8.
Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.
Clin Genet
; 105(2): 196-201, 2024 02.
Article
in English
| MEDLINE | ID: mdl-37850357
9.
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Clin Genet
; 105(5): 510-522, 2024 05.
Article
in English
| MEDLINE | ID: mdl-38221827
10.
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Mov Disord
; 39(3): 526-538, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38214203
11.
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Brain
; 146(7): 2753-2765, 2023 07 03.
Article
in English
| MEDLINE | ID: mdl-36478228
12.
Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease.
Intern Med J
; 54(3): 398-403, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37493453
13.
Noninsect-Based Diet Leads to Structural and Functional Changes of Acidic Chitinase in Carnivora.
Mol Biol Evol
; 39(1)2022 01 07.
Article
in English
| MEDLINE | ID: mdl-34897517
14.
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Hum Genet
; 142(10): 1491-1498, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37656279
15.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35471564
16.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37119330
17.
How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years.
Neurol Sci
; 44(4): 1375-1381, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-36456878
18.
Screening for Fabry disease in a series of Parkinson's disease patients and literature review.
Neurol Sci
; 44(4): 1235-1241, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-36547780
19.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet
; 59(10): 993-1001, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-34952832
20.
Treatment of knee cartilage by cultured stem cells and three dimensional scaffold: a phase I/IIa clinical trial.
Int Orthop
; 47(10): 2375-2382, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-35854056