Shahzad T. Haider

Wah, PB 47000, Pakistan

Last Updated: 09/26/2026

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Found 8 publications

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Journal: Brain : a journal of neurology

Published: October 06, 2023

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Journal: American journal of human genetics

Published: March 27, 2022

Diagnostic evaluation of heel prick newborn screening of thyroid stimulating hormone on dissociation-enhanced lanthanide fluorescence immunoassay with the establishment of reference value in Pakistani neonates.

Diagnostic evaluation of heel prick newborn screening of thyroid stimulating hormone on dissociation-enhanced lanthanide fluorescence immunoassay with the establishment of reference value in Pakistani neonates.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: February 14, 2022

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Journal: Human mutation

Published: July 27, 2021

Foliar application of triacontanol ameliorates heat stress through regulation of the antioxidant defense system and improves yield of eggplant.

Foliar application of triacontanol ameliorates heat stress through regulation of the antioxidant defense system and improves yield of eggplant.

Journal: Brazilian journal of biology = Revista brasleira de biologia

Published: June 28, 2021

Correction: Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Correction: Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Journal: Klinische Padiatrie

Published: May 10, 2021

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Journal: Klinische Padiatrie

Published: April 08, 2021

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 02, 2020

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Last Updated: 09/26/2026