Detalles de la búsqueda
1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37750049
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37183573
3.
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.
J Hum Genet
; 67(11): 669-673, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-35896821
4.
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
J Hum Genet
; 67(1): 55-64, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34354232
5.
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Am J Med Genet A
; 188(2): 648-657, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34761517
6.
KBG syndrome in two patients from Egypt.
Am J Med Genet A
; 182(6): 1309-1312, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32222090
7.
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Am J Med Genet A
; 182(6): 1407-1420, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32267100
8.
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
Hum Genet
; 138(3): 231-239, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30778726
9.
Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.
Cytogenet Genome Res
; 159(3): 130-136, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31715598
10.
Philtrum length and intercommissural distance measurements at mixed dentition period.
Am J Med Genet A
; 176(5): 1145-1149, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29681097
11.
Phenotypic and molecular insights into PQBP1-related intellectual disability.
Am J Med Genet A
; 176(11): 2446-2450, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30244542
12.
Elevated uric acid in gestational diabetes and its risk on pregnancy outcomes.
SAGE Open Med
; 12: 20503121241241934, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38566965
13.
Diagnosis of coronavirus disease 2019 and the potential role of deep learning: insights from the experience of Cairo University Hospitals.
J Int Med Res
; 50(7): 3000605221109392, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35861236
14.
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
Genes (Basel)
; 13(6)2022 06 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35741818
15.
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Eur J Med Genet
; 65(1): 104377, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34748996
16.
Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.
Mol Syndromol
; 13(5): 389-396, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36588752
17.
Accuracy of the Traditional COVID-19 Phone Triaging System and Phone Triage-Driven Deep Learning Model.
J Prim Care Community Health
; 13: 21501319221113544, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35869692
18.
An Adapted Online Family Medicine Training for House Officers Amid Covid-19 Pandemic in Egypt.
J Prim Care Community Health
; 12: 21501327211017007, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33985376
19.
Effect of DASH Diet Versus Healthy Dietary Advice on the Estimated Atherosclerotic Cardiovascular Disease Risk.
J Prim Care Community Health
; 12: 2150132720980952, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33632022
20.
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Genes (Basel)
; 12(9)2021 09 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34573371