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Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. [electronic resource] by
- Noor, Abdul
- Windpassinger, Christian
- Patel, Megha
- Stachowiak, Beata
- Mikhailov, Anna
- Azam, Matloob
- Irfan, Muhammad
- Paterson, Andrew D
- Lutufullah, Muhammad
- Doherty, Dan
- Vincent, John B
- Ayub, Muhammad
Producer: 20090106
In:
American journal of human genetics vol. 83
Availability: No items available.
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7.
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CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. [electronic resource] by
- Noor, Abdul
- Windpassinger, Christian
- Patel, Megha
- Stachowiak, Beata
- Mikhailov, Anna
- Azam, Matloob
- Irfan, Muhammad
- Siddiqui, Zahid Kamal
- Naeem, Farooq
- Paterson, Andrew D
- Lutfullah, Muhammad
- Vincent, John B
- Ayub, Muhammad
Producer: 20080513
In:
American journal of human genetics vol. 82
Availability: No items available.
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8.
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Recurrent homozygous damaging mutation in [electronic resource] by
- Ghosh, Shereen Georges
- Wang, Lu
- Breuss, Martin W
- Green, Joshua D
- Stanley, Valentina
- Yang, Xiaoxu
- Ross, Danica
- Traynor, Bryan J
- Alhashem, Amal M
- Azam, Matloob
- Selim, Laila
- Bastaki, Laila
- Elbastawisy, Hanan I
- Temtamy, Samia
- Zaki, Maha
- Gleeson, Joseph G
Producer: 20210204
In:
Journal of medical genetics vol. 57
Availability: No items available.
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9.
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Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. [electronic resource] by
- Johansen, Anide
- Rosti, Rasim O
- Musaev, Damir
- Sticca, Evan
- Harripaul, Ricardo
- Zaki, Maha
- Çağlayan, Ahmet Okay
- Azam, Matloob
- Sultan, Tipu
- Froukh, Tawfiq
- Reis, André
- Popp, Bernt
- Ahmed, Iltaf
- John, Peter
- Ayub, Muhammad
- Ben-Omran, Tawfeg
- Vincent, John B
- Gleeson, Joseph G
- Abou Jamra, Rami
Producer: 20170524
In:
American journal of human genetics vol. 99
Availability: No items available.
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10.
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Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. [electronic resource] by
- Mir, Asif
- Kaufman, Liana
- Noor, Abdul
- Motazacker, Mahdi M
- Jamil, Talal
- Azam, Matloob
- Kahrizi, Kimia
- Rafiq, Muhammad Arshad
- Weksberg, Rosanna
- Nasr, Tanveer
- Naeem, Farooq
- Tzschach, Andreas
- Kuss, Andreas W
- Ishak, Gisele E
- Doherty, Dan
- Ropers, H Hilger
- Barkovich, A James
- Najmabadi, Hossein
- Ayub, Muhammad
- Vincent, John B
Producer: 20100114
In:
American journal of human genetics vol. 85
Availability: No items available.
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11.
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Exome sequencing can improve diagnosis and alter patient management. [electronic resource] by
- Dixon-Salazar, Tracy J
- Silhavy, Jennifer L
- Udpa, Nitin
- Schroth, Jana
- Bielas, Stephanie
- Schaffer, Ashleigh E
- Olvera, Jesus
- Bafna, Vineet
- Zaki, Maha S
- Abdel-Salam, Ghada H
- Mansour, Lobna A
- Selim, Laila
- Abdel-Hadi, Sawsan
- Marzouki, Naima
- Ben-Omran, Tawfeg
- Al-Saana, Nouriya A
- Sonmez, F Müjgan
- Celep, Figen
- Azam, Matloob
- Hill, Kiley J
- Collazo, Adrienne
- Fenstermaker, Ali G
- Novarino, Gaia
- Akizu, Naiara
- Garimella, Kiran V
- Sougnez, Carrie
- Russ, Carsten
- Gabriel, Stacey B
- Gleeson, Joseph G
Producer: 20121019
In:
Science translational medicine vol. 4
Availability: No items available.
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12.
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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. [electronic resource] by
- Akizu, Naiara
- Cantagrel, Vincent
- Zaki, Maha S
- Al-Gazali, Lihadh
- Wang, Xin
- Rosti, Rasim Ozgur
- Dikoglu, Esra
- Gelot, Antoinette Bernabe
- Rosti, Basak
- Vaux, Keith K
- Scott, Eric M
- Silhavy, Jennifer L
- Schroth, Jana
- Copeland, Brett
- Schaffer, Ashleigh E
- Gordts, Philip L S M
- Esko, Jeffrey D
- Buschman, Matthew D
- Field, Seth J
- Napolitano, Gennaro
- Abdel-Salam, Ghada M
- Ozgul, R Koksal
- Sagıroglu, Mahmut Samil
- Azam, Matloob
- Ismail, Samira
- Aglan, Mona
- Selim, Laila
- Mahmoud, Iman G
- Abdel-Hadi, Sawsan
- Badawy, Amera El
- Sadek, Abdelrahim A
- Mojahedi, Faezeh
- Kayserili, Hulya
- Masri, Amira
- Bastaki, Laila
- Temtamy, Samia
- Müller, Ulrich
- Desguerre, Isabelle
- Casanova, Jean-Laurent
- Dursun, Ali
- Gunel, Murat
- Gabriel, Stacey B
- de Lonlay, Pascale
- Gleeson, Joseph G
Producer: 20150706
In:
Nature genetics vol. 47
Availability: No items available.
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13.
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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. [electronic resource] by
- Novarino, Gaia
- Fenstermaker, Ali G
- Zaki, Maha S
- Hofree, Matan
- Silhavy, Jennifer L
- Heiberg, Andrew D
- Abdellateef, Mostafa
- Rosti, Basak
- Scott, Eric
- Mansour, Lobna
- Masri, Amira
- Kayserili, Hulya
- Al-Aama, Jumana Y
- Abdel-Salam, Ghada M H
- Karminejad, Ariana
- Kara, Majdi
- Kara, Bulent
- Bozorgmehri, Bita
- Ben-Omran, Tawfeg
- Mojahedi, Faezeh
- El Din Mahmoud, Iman Gamal
- Bouslam, Naima
- Bouhouche, Ahmed
- Benomar, Ali
- Hanein, Sylvain
- Raymond, Laure
- Forlani, Sylvie
- Mascaro, Massimo
- Selim, Laila
- Shehata, Nabil
- Al-Allawi, Nasir
- Bindu, P S
- Azam, Matloob
- Gunel, Murat
- Caglayan, Ahmet
- Bilguvar, Kaya
- Tolun, Aslihan
- Issa, Mahmoud Y
- Schroth, Jana
- Spencer, Emily G
- Rosti, Rasim O
- Akizu, Naiara
- Vaux, Keith K
- Johansen, Anide
- Koh, Alice A
- Megahed, Hisham
- Durr, Alexandra
- Brice, Alexis
- Stevanin, Giovanni
- Gabriel, Stacy B
- Ideker, Trey
- Gleeson, Joseph G
Producer: 20140224
In:
Science (New York, N.Y.) vol. 343
Availability: No items available.
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