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Salman Kirmani
134  results:
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1

Potassium channel subfamily T member 1(KCNT1) pathological ..:

Prem Chand ; Meher Angez ; Ayesha Nasir Hameed.
Journal of the Pakistan Medical Association.  73 (2023)  8 - p. 1720-1722 , 2023
Link: https://doi.org/10.47391..
 
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2

Clinical experience of next generation sequencing based exp..:

Akbar, Fizza ; Kirmani, Salman ; Qazi, Muhammad Farrukh...
Prenatal Diagnosis.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Predictors of neurocognition outcomes in children and young..:

Zahid, Nida ; Enam, S. Ather ; Mårtensson, Thomas...
Child's Nervous System.  40 (2024)  6 - p. 1707-1719 , 2024
Link: https://doi.org/10.1007/..
 
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4

Factors associated with changes in the quality of life and ..:

Zahid, Nida ; Enam, Syed Ather ; Mårtensson, Thomas...
BMC Pediatrics.  24 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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5

P098: CHEK2 variants contributing to hereditary breast canc..:

Saleem, Aushna ; Akbar, Fizza ; Zahid, Bassim..
Genetics in Medicine Open.  2 (2024)  - p. 100979 , 2024
Link: https://doi.org/10.1016/..
 
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6

P214: Experience in delivering free of cost gene therapy fo..:

Kirmani, Salman ; Akbar, Fizza ; Mehboobali, Arif.
Genetics in Medicine Open.  1 (2023)  1 - p. 100242 , 2023
Link: https://doi.org/10.1016/..
 
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7

Mutation of TBC1 Domain containing kinase (TBCK) with assoc..:

Prem Chand ; Sulaiman, Asna ; Kirmani, Salman
Journal of the Pakistan Medical Association.  73 (2023)  10 - p. 2083-2085 , 2023
Link: https://doi.org/10.47391..
 
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8

P368: Disease-causing variants in inherited retinal disease..:

Fatima, Malika ; Zakaria, Maheen ; Akbar, Fizza...
Genetics in Medicine Open.  1 (2023)  1 - p. 100396 , 2023
Link: https://doi.org/10.1016/..
 
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9

The role of medical students in advocacy for rare diseases ..:

Qamar, Javeria Bilal ; Uzair, Muhammad ; Ahmed, Shahnoor...
Rare.  1 (2023)  - p. 100004 , 2023
Link: https://doi.org/10.1016/..
 
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10

Potassium voltage-gated channel subfamily H member 1 (KCNH1..:

Prem Chand ; Sulaiman, Asna ; Kirmani, Salman
Journal of the Pakistan Medical Association.  73 (2023)  9 - p. 1894-1896 , 2023
Link: https://doi.org/10.47391..
 
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11

Endocrine Abnormalities in Children With Traumatic Brain In..:

Rao, Aaida ; Laghari, Altaf Ali ; Bari, Iman...
Cureus.  , 2023
Link: https://doi.org/10.7759/..
 
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12

The spectrum of hereditary neuromuscular disorders in the P..:

Akbar, Fizza ; Saleem, Shafaq Muhammad ; Khalid, Ehtesham...
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2536-2550 , 2023
Link: https://doi.org/10.1002/..
 
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13

Same GNE variant in unrelated patients in Pakistani populat..:

Saleem, Shafaq ; Akbar, Fizza ; Kirmani, Salman.
Journal of the Neurological Sciences.  455 (2023)  - p. 122048 , 2023
Link: https://doi.org/10.1016/..
 
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14

Experience in prenatal genetic testing and reproductive dec..:

Hanif, Amna ; Akbar, Fizza ; Kirmani, Salman...
BMC Pregnancy and Childbirth.  23 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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15

Socio-demographic and antenatal risk factors of brain tumor..:

Zahid, Nida ; Enam, Syed Ather ; Urooj, Faiza...
Journal of Public Health Research.  12 (2023)  3 - p. , 2023
Link: https://doi.org/10.1177/..
 
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