Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38118446
2.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
3.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
; 147(5): 1822-1836, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38217872
4.
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder.
J Hum Genet
; 69(6): 263-270, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459224
5.
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.
J Hum Genet
; 69(2): 79-84, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38017281
6.
Delineating the phenotype of PNPLA8-related mitochondriopathies.
Clin Genet
; 105(1): 92-98, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671596
7.
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Clin Genet
; 105(5): 510-522, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221827
8.
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Am J Med Genet A
; 194(2): 226-232, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798908
9.
A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
Am J Med Genet A
; 194(1): 39-45, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750049
10.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
11.
Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.
Clin Oral Investig
; 28(5): 254, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630328
12.
Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.
Mol Genet Genomics
; 298(3): 709-720, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37010587
13.
Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.
Mol Genet Genomics
; 298(4): 919-929, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37140700
14.
Expanding the phenotypic spectrum and clinical severity associated with WLS gene.
J Hum Genet
; 68(9): 607-613, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37106064
15.
A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.
Clin Genet
; 104(3): 356-364, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37190898
16.
Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
Clin Genet
; 104(2): 238-244, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055917
17.
CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Am J Med Genet A
; 191(8): 2100-2112, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183573
18.
An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.
Mol Biol Rep
; 50(8): 6373-6379, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37318662
19.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Brain
; 145(3): 909-924, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34605855
20.
Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.
Mol Genet Genomics
; 297(3): 689-698, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278126