Author/Creator: Basit, Sulman - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Basit, Sulman

31. UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan. Issue 3 (September 2019)

Authors:: Ijaz, Ambreen; Wolf, Sabrina; Mandukhail, Safur Rehman; Basit, Sulman; Betz, Regina C.; Wali, Abdul
Journal:: Journal of dermatological science
Issue:: Volume 95:Issue 3(2019)
Page Start:: 113
Record Type:: Journal Article
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32. Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa. (28th May 2017)

Authors:: Hashmi, Jamil Amjad; Albarry, Maan Abdullah; Almatrafi, Ahmed M.; Albalawi, Alia M.; Mahmood, Amer; Basit, Sulman
Journal:: Congenital anomalies
Issue:: Volume 58:Number 1(2018)
Page Start:: 10
Record Type:: Journal Article
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33. Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2. (29th August 2017)

Authors:: Basit, Sulman; Alharby, Essa; Albalawi, Alia M.; Khoshhal, Khalid I.
Journal:: Congenital anomalies
Issue:: Volume 58:Number 2(2018)
Page Start:: 56
Record Type:: Journal Article
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34. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2. Issue 2 (August 2015)

Authors:: Jan, Abid; Basit, Sulman; Wakil, Salma M.; Ramzan, Khushnooda; Ahmad, Wasim
Journal:: Journal of dermatological science
Issue:: Volume 79:Issue 2(2015:Aug.)
Page Start:: 173
Record Type:: Journal Article
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35. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2. Issue 2 (August 2015)

Authors:: Jan, Abid; Basit, Sulman; Wakil, Salma M.; Ramzan, Khushnooda; Ahmad, Wasim
Journal:: Journal of dermatological science
Issue:: Volume 79:Issue 2(2015:Aug.)
Page Start:: 173
Record Type:: Journal Article
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36. X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family. Issue 1 (December 2018)

Authors:: Khan, Muhammad; Pollock, Nijole; Jiang, Huaiyang; Castro, Carlos; Nazli, Rubina; Ahmed, Jawad; Basit, Sulman; Rajkovic, Aleksandar; Yatsenko, Alexander
Journal:: Scientific reports
Issue:: Volume 8:Issue 1(2018)
Page Start:: 1
Record Type:: Journal Article
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37. XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect. (15th April 2018)

Authors:: Ijaz, Ambreen; Basit, Sulman; Gul, Ajab; Batool, Lilas; Hussain, Abrar; Afzal, Sibtain; Ramzan, Khushnooda; Ahmad, Jamil; Wali, Abdul
Journal:: Congenital anomalies
Issue:: Volume 59:Number 1(2019)
Page Start:: 18
Record Type:: Journal Article
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38. Xq21.31–q21.32 duplication underlies intellectual disability in a large family with five affected males. Issue 1 (11th September 2015)

Authors:: Basit, Sulman; Malibari, Omhani I.; Al‐Balawi, Alia M.; Afzal, Sibtain; Eldardear, Amr Elsayed Mohamed; Ramzan, Khushnooda
Journal:: American journal of medical genetics
Issue:: Volume 170:Issue 1(2016)
Page Start:: 87
Record Type:: Journal Article
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