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Author/Creator Muhammad, Noor

2. A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome. Issue 1 (December 2016)

Authors:
Rashid, Muhammad; Naeemi, Humaira; Muhammad, Noor; Loya, Asif; Yusuf, Muhammed; Lubiński, Jan; Jakubowska, Anna; Hamann, Ute
Journal:
Hereditary cancer in clinical practice
Issue:
Volume 14:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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3. A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. (28th December 2017)

Authors:
Khan, Anwar Kamal; Muhammad, Noor; Khan, Sher Alam; Ullah, Waheed; Nasir, Abdul; Afzal, Sibtain; Ramzan, Khushnooda; Basit, Sulman; Khan, Saadullah
Journal:
Annals of human genetics
Issue:
Volume 82:Number 3(2018:May)
Page Start:
171
Record Type:
Journal Article
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8. Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin. (15th February 2023)

Authors:
Khan, Niamatullah; Shah, Khadim; Fozia, Fozia; Khan, Sher A.; Muhammad, Nazif; Nasir, Abdul; Ahmad, Ijaz; Rehman, Zia U.; Jan, Abid; Muhammad, Noor; Khan, Saadullah
Journal:
International journal of dermatology
Issue:
Volume 62:Number 5(2023)
Page Start:
672
Record Type:
Journal Article
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9. Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families. (11th May 2019)

Authors:
Khan, Ghulam M.; Hassan, Noor; Khan, Niamatullah; Humayun, Muhammad; Khan, Kafaitullah; Khaliq, Samira; Rehman, Fazal U.; Ahmed, Sheikh; Shah, Khadim; Khan, Sher A.; Muhammad, Noor; Wali, Abdul; Khan, Saadullah; Basit, Sulman; Ayub, Muhammad
Journal:
International journal of dermatology
Issue:
Volume 58:Number 8(2019)
Page Start:
946
Record Type:
Journal Article
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10. Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Issue 10 (21st July 2022)

Authors:
Lin, Sheng‐Jia; Vona, Barbara; Porter, Hillary M.; Izadi, Mahmoud; Huang, Kevin; Lacassie, Yves; Rosenfeld, Jill A.; Khan, Saadullah; Petree, Cassidy; Ali, Tayyiba A.; Muhammad, Nazif; Khan, Sher A.; Muhammad, Noor; Liu, Pengfei; Haymon, Marie‐Louise; Rüschendorf, Franz; Kong, Il‐Keun; Schnapp, L...
Journal:
Human mutation
Issue:
Volume 43:Issue 10(2022)
Page Start:
1472
Record Type:
Journal Article
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