Results
|
21.
|
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.
|
|
22.
|
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. [electronic resource] by
- Santos-Cortez, Regie Lyn P
- Khan, Valeed
- Khan, Falak Sher
- Mughal, Zaib-Un-Nisa
- Chakchouk, Imen
- Lee, Kwanghyuk
- Rasheed, Memoona
- Hamza, Rifat
- Acharya, Anushree
- Ullah, Ehsan
- Saqib, Muhammad Arif Nadeem
- Abbe, Izoduwa
- Ali, Ghazanfar
- Hassan, Muhammad Jawad
- Khan, Saadullah
- Azeem, Zahid
- Ullah, Irfan
- Bamshad, Michael J
- Nickerson, Deborah A
- Schrauwen, Isabelle
- Ahmad, Wasim
- Ansar, Muhammad
- Leal, Suzanne M
Producer: 20180924
In:
Human genetics vol. 137
Availability: No items available.
|
|
23.
|
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.
|
|
24.
|
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. [electronic resource] by
- Beck, David B
- Petracovici, Ana
- He, Chongsheng
- Moore, Hannah W
- Louie, Raymond J
- Ansar, Muhammad
- Douzgou, Sofia
- Sithambaram, Sivagamy
- Cottrell, Trudie
- Santos-Cortez, Regie Lyn P
- Prijoles, Eloise J
- Bend, Renee
- Keren, Boris
- Mignot, Cyril
- Nougues, Marie-Christine
- Õunap, Katrin
- Reimand, Tiia
- Pajusalu, Sander
- Zahid, Muhammad
- Saqib, Muhammad Arif Nadeem
- Buratti, Julien
- Seaby, Eleanor G
- McWalter, Kirsty
- Telegrafi, Aida
- Baldridge, Dustin
- Shinawi, Marwan
- Leal, Suzanne M
- Schaefer, G Bradley
- Stevenson, Roger E
- Banka, Siddharth
- Bonasio, Roberto
- Fahrner, Jill A
Producer: 20200417
In:
American journal of human genetics vol. 106
Availability: No items available.
|