Resham Ejaz

发表

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Michael Brudno, Daniele Merico, Christian R Marshall, 2016, npj Genomic Medicine.

Selective serotonin reuptake inhibitor discontinuation during pregnancy: at what risk?

G. Koren, Resham Ejaz, Tom Leibson, 2014, Canadian family physician Medecin de famille canadien.

Comparative Study of Metformin Versus Clomiphine Citrate for Ovulation Induction in Polycystic Ovary Syndrome at Lady Willingdon Hospital Lahore

A. Hanif, Resham Ejaz, Ghazala Ejaz, 2012 .

Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report

R. RamachandranNair, Resham Ejaz, Breanne Dale, 2021, Neurology: Genetics.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Andrei L. Turinsky, S. Scherer, C. Cytrynbaum, 2019, BMC Medical Genomics.

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

D. Stavropoulos, R. Mendoza-Londono, Ann M. Joseph-George, 2018, Molecular Cytogenetics.

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

D. Cordeiro, S. Mercimek-Andrews, Resham Ejaz, 2018, American journal of medical genetics. Part A.

Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant

Resham Ejaz, Breanne Dale, M. Schneeweiss, 2022, BMJ Case Reports.

Primary mediastinal paraganglioma associated with a familial variant in the succinate dehydrogenase B subunit gene

S. Ezzat, R. Kim, N. Samuel, 2018, Journal of surgical oncology.

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay

S. Scherer, A. C. Lionel, C. Marshall, 2017, American journal of medical genetics. Part A.

Child Neurology: Diencephalic syndrome–like presentation of a cervicomedullary brainstem tumor

J. Rutka, M. Moharir, Resham Ejaz, 2016, Neurology.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

S. Scherer, C. Cytrynbaum, R. Weksberg, 2019, BMC Medical Genomics.

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

Lijia Huang, K. Boycott, T. Hartley, 2016, American journal of medical genetics. Part A.

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia

S. Subramony, S. Perlman, K. Mathews, 2018, Journal of child neurology.

Lateral Meningocele Syndrome

K. Gripp, M. Carter, Resham Ejaz, 2016 .

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

D. Chitayat, R. Babul‐Hirji, Resham Ejaz, 2016, Clinical case reports.