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Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists|February 17, 2012
Molecular genetic testing in endocrinology - a practical guideSalman Kirmani
Seminars in Pediatric Neurology|August 24, 2014
A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosisRadhika Dhamija, Salman Kirmani
Bosnian Journal of Basic Medical Sciences|November 17, 2009
Towards individualized medicine: insights gained from genomic studiesSalman Kirmani, Dusica Babovic-Vuksanovic
JPMA. the Journal of the Pakistan Medical Association|October 25, 2023
Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And HypotoniaPrem Chand, Asna Sulaiman, Salman Kirmani
JPMA. the Journal of the Pakistan Medical Association|October 11, 2023
Potassium Voltage-Gated Channel Subfamily H Member 1 (KCNH1) Missense Mutation Causing Epileptic Encephalopathy And Autistic BehaviourPrem Chand, Asna Sulaiman, Salman Kirmani
Romanian Journal of Ophthalmology|April 24, 2023
Central retinal artery occlusion as a result of symptomatic patent foramen ovaleHaroon Tayyab, Faiqa Binte Aamir, Salman Kirmani
Pediatric Endocrinology, Diabetes, and Metabolism|September 15, 2022
Wolcott-Rallison syndrome: a case series of three patientsFozia Memon, Muzna Arif, Salman Kirmani, et al.
JPMA. the Journal of the Pakistan Medical Association|July 20, 2023
Early Infantile Epileptic Encephalopathy In Asparagine-Linked Glycosylation Thirteen (ALG13) Gene Defect And Dramatic Response With Ketogenic DietPrem Chand, Asna Sulaiman, Meher Angez, et al.
Case Reports in Genetics|August 22, 2022
Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)Zul Qarnain, Fatima Khan, Fizza Akbar, et al.
JPMA. the Journal of the Pakistan Medical Association|September 12, 2023
Potassium Channel Subfamily T Member 1(KCNT1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case ReportPrem Chand, Meher Angez, Ayesha Nasir Hameed, et al.
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