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Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). [electronic resource] by
- Azeem, Zahid
- Jelani, Musharraf
- Naz, Gul
- Tariq, Muhammad
- Wasif, Naveed
- Kamran-Ul-Hassan Naqvi, Syed
- Ayub, Muhammad
- Yasinzai, Masoom
- Amin-Ud-Din, Muhammad
- Wali, Abdul
- Ali, Ghazanfar
- Chishti, Muhammad Salman
- Ahmad, Wasim
Producer: 20080609
In:
Human genetics vol. 123
Availability: No items available.
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7.
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Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability. [electronic resource] by
- Mittal, Kirti
- Rafiq, Muhammad A
- Rafiullah, Rafiullah
- Harripaul, Ricardo
- Ali, Hazrat
- Ayaz, Muhammad
- Aslam, Muhammad
- Naeem, Farooq
- Amin-Ud-Din, Muhammad
- Waqas, Ahmed
- So, Joyce
- Rappold, Gudrun A
- Vincent, John B
- Ayub, Muhammad
Producer: 20170406
In:
Journal of human genetics vol. 61
Availability: No items available.
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8.
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Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. [electronic resource] by
- Santos-Cortez, Regie Lyn P
- Lee, Kwanghyuk
- Giese, Arnaud P
- Ansar, Muhammad
- Amin-Ud-Din, Muhammad
- Rehn, Kira
- Wang, Xin
- Aziz, Abdul
- Chiu, Ilene
- Hussain Ali, Raja
- Smith, Joshua D
- Shendure, Jay
- Bamshad, Michael
- Nickerson, Deborah A
- Ahmed, Zubair M
- Ahmad, Wasim
- Riazuddin, Saima
- Leal, Suzanne M
Producer: 20150112
In:
Human molecular genetics vol. 23
Availability: No items available.
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Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. [electronic resource] by
- Ravesh, Zeinab
- El Asrag, Mohammed E
- Weisschuh, Nicole
- McKibbin, Martin
- Reuter, Peggy
- Watson, Christopher M
- Baumann, Britta
- Poulter, James A
- Sajid, Sundus
- Panagiotou, Evangelia S
- O'Sullivan, James
- Abdelhamed, Zakia
- Bonin, Michael
- Soltanifar, Mehdi
- Black, Graeme C M
- Amin-ud Din, Muhammad
- Toomes, Carmel
- Ansar, Muhammad
- Inglehearn, Chris F
- Wissinger, Bernd
- Ali, Manir
Producer: 20150911
In:
Molecular vision vol. 21
Availability: No items available.
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Mutation of ATF6 causes autosomal recessive achromatopsia. [electronic resource] by
- Ansar, Muhammad
- Santos-Cortez, Regie Lyn P
- Saqib, Muhammad Arif Nadeem
- Zulfiqar, Fareeha
- Lee, Kwanghyuk
- Ashraf, Naeem Mahmood
- Ullah, Ehsan
- Wang, Xin
- Sajid, Sundus
- Khan, Falak Sher
- Amin-ud-Din, Muhammad
- Smith, Joshua D
- Shendure, Jay
- Bamshad, Michael J
- Nickerson, Deborah A
- Hameed, Abdul
- Riazuddin, Saima
- Ahmed, Zubair M
- Ahmad, Wasim
- Leal, Suzanne M
Producer: 20151028
In:
Human genetics vol. 134
Availability: No items available.
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11.
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Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. [electronic resource] by
- Rafiq, Muhammad Arshad
- Leblond, Claire S
- Saqib, Muhammad Arif Nadeem
- Vincent, Akshita K
- Ambalavanan, Amirthagowri
- Khan, Falak Sher
- Ayaz, Muhammad
- Shaheen, Naseema
- Spiegelman, Dan
- Ali, Ghazanfar
- Amin-ud-Din, Muhammad
- Laurent, Sandra
- Mahmood, Huda
- Christian, Mehtab
- Ali, Nadir
- Fennell, Alanna
- Nanjiani, Zohair
- Egger, Gerald
- Caron, Chantal
- Waqas, Ahmed
- Ayub, Muhammad
- Rasheed, Saima
- Forgeot d'Arc, Baudouin
- Johnson, Amelie
- So, Joyce
- Brohi, Muhammad Qasim
- Mottron, Laurent
- Ansar, Muhammad
- Vincent, John B
- Xiong, Lan
Producer: 20150831
In:
BMC medical genetics vol. 16
Availability: No items available.
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