Detalhe da pesquisa
1.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33824500
2.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Hum Mutat
; 40(3): 267-280, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30520571
3.
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Am J Hum Genet
; 98(4): 615-26, 2016 Apr 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26996948
4.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Am J Hum Genet
; 99(6): 1368-1376, 2016 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27889060
5.
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Genome Res
; 25(7): 948-57, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25917818
6.
ASSESSMENT OF KNOWLEDGE, ATTITUDE AND PRACTICE TOWARDS CONSANGUINEOUS MARRIAGES AMONG A COHORT OF MULTIETHNIC HEALTH CARE PROVIDERS IN SAUDI ARABIA.
J Biosoc Sci
; 50(1): 1-18, 2018 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-28031058
7.
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.
Hum Genomics
; 10(1): 26, 2016 07 16.
Artigo
Inglês
| MEDLINE | ID: mdl-27421267
8.
E-learning for research capacity strengthening in sexual and reproductive health: the experience of the Geneva Foundation for Medical Education and Research and the Department of Reproductive Health and Research, World Health Organization.
Hum Resour Health
; 14(1): 76, 2016 12 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27927220
9.
Consanguinity and dysmorphology in Arabs.
Hum Hered
; 77(1-4): 93-107, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25060273
10.
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
Hum Mutat
; 35(8): 959-63, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24864036
11.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Hum Mutat
; 35(10): 1203-10, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25044680
12.
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.
BMC Med Genet
; 15: 135, 2014 Dec 17.
Artigo
Inglês
| MEDLINE | ID: mdl-25516138
13.
Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
Am J Med Genet A
; 164A(5): 1254-61, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24478242
14.
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.
Am J Hum Genet
; 87(6): 768-78, 2010 Dec 10.
Artigo
Inglês
| MEDLINE | ID: mdl-21129727
15.
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Am J Hum Genet
; 86(5): 696-706, 2010 May 14.
Artigo
Inglês
| MEDLINE | ID: mdl-20381006
16.
Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.
Clin Neurol Neurosurg
; 230: 107799, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37236004
17.
Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq.
BMC Blood Disord
; 12: 4, 2012 Mar 27.
Artigo
Inglês
| MEDLINE | ID: mdl-22452742
18.
The changing profile of consanguinity rates in Bahrain, 1990-2009.
J Biosoc Sci
; 44(3): 313-9, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22123433
19.
Sickle cell disease in the Kurdish population of northern Iraq.
Hemoglobin
; 36(4): 333-42, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22686351
20.
Generation of three human induced pluripotent stem cell lines with IRX5 knockout and knockin genetic editions using CRISPR-Cas9 system.
Stem Cell Res
; 58: 102627, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34929443