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1.
Clinical experience of next generation sequencing based expanded carrier screening in high-risk couples from a tertiary healthcare center in Pakistan.
Prenat Diagn
; 2024 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38488835
2.
The spectrum of hereditary neuromuscular disorders in the Pakistani population.
Am J Med Genet A
; 191(10): 2536-2550, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37366078
3.
Prophylactic Risk-Reducing Mastectomy (PRRM): A Set Practice or Catch-22 Situation in LMIC. A Single-Centre Prospective Cohort Study.
World J Surg
; 47(9): 2154-2160, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37145137
4.
Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country.
BMC Pregnancy Childbirth
; 23(1): 431, 2023 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37301973
5.
Challenges and opportunities in the establishment of a hereditary breast cancer clinic at an academic medical center in a low-middle income country.
J Genet Couns
; 31(4): 998-1002, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35099095
6.
Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.
Hered Cancer Clin Pract
; 20(1): 24, 2022 Jun 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-35710434
7.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34113002
8.
Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country.
Clin Lab
; 67(6)2021 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34107619
9.
Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan.
J Pediatr Endocrinol Metab
; 36(8): 761-771, 2023 Aug 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37440674
10.
Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.
J Pediatr Endocrinol Metab
; 35(3): 373-385, 2022 Mar 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34989216
11.
Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report).
Case Rep Genet
; 2022: 2766957, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35990009
12.
Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.
Epilepsy Behav Rep
; 20: 100575, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36471706
13.
Assessing Health-Related Quality of Life, Morbidity, and Survival Status for Individuals With Down Syndrome in Pakistan (DS-Pak): Protocol for a Web-Based Collaborative Registry.
JMIR Res Protoc
; 10(6): e24901, 2021 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34081014
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