Detalles de la búsqueda
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.
Predictors of neurocognition outcomes in children and young people with primary brain tumor presenting to tertiary care hospitals of Karachi, Pakistan: a prospective cohort study.
Childs Nerv Syst
; 40(6): 1707-1719, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38363314
3.
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
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.
Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia.
J Pak Med Assoc
; 73(10): 2083-2085, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37876076
6.
Potassium Voltage-Gated Channel Subfamily H Member 1 (KCNH1) Missense Mutation Causing Epileptic Encephalopathy And Autistic Behaviour.
J Pak Med Assoc
; 73(9): 1894-1896, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37817707
7.
Early Infantile Epileptic Encephalopathy In Asparagine-Linked Glycosylation Thirteen (ALG13) Gene Defect And Dramatic Response With Ketogenic Diet.
J Pak Med Assoc
; 73(7): 1521-1523, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37469072
8.
The potential of stem cell therapy to tackle visual impairment.
J Pak Med Assoc
; 73(Suppl 1)(2): S79-S88, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-36788396
9.
Potassium Channel Subfamily T Member 1(KCNT1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case Report.
J Pak Med Assoc
; 73(8): 1720-1722, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37697770
10.
Building the ecosystem for pediatric neuro-oncology care in Pakistan: Results of a 7-year long twinning program between Canada and Pakistan.
Pediatr Blood Cancer
; 69(9): e29726, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35484912
11.
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
12.
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
13.
A case report on fibular aplasia, tibial campomelia, oligosyndactyly syndrome variant in a male infant.
J Pak Med Assoc
; 72(5): 975-977, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35713069
14.
Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in Pakistan.
J Pak Med Assoc
; 72(3): 526-531, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35320237
15.
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
16.
Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low-resource settings.
Pediatr Blood Cancer
; 67(8): e28309, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32472748
17.
Clinical utility of endocrine markers predicting myocardial siderosis in transfusion dependent thalassemia major.
Pediatr Blood Cancer
; 65(10): e27285, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29893484
18.
Clinical and laboratory profile of children with Cystic Fibrosis: Experience of a tertiary care center in Pakistan.
Pak J Med Sci
; 33(3): 554-559, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28811770
19.
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet
; 22(10): 2055-66, 2013 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23393157
20.
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
Am J Med Genet A
; 164A(9): 2356-9, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24888332