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Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia. [electronic resource] by
- Kaya, Namik
- Colak, Dilek
- Al-Bakheet, Albandary
- Al-Younes, Banan
- Tulbah, Sahar
- Daghestani, Maha
- Al-Mutairi, Fuad
- Al-Amoudi, Mohammed
- Al-Odaib, Ali
- Al-Aqeel, Aida I
Producer: 20130419
In:
Gene vol. 513
Availability: No items available.
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10.
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Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. [electronic resource] by
- Patrinos, George P
- Al Aama, Jumana
- Al Aqeel, Aida
- Al-Mulla, Fahd
- Borg, Joseph
- Devereux, Andrew
- Felice, Alex E
- Macrae, Finlay
- Marafie, Makia J
- Petersen, Michael B
- Qi, Ming
- Ramesar, Rajkumar S
- Zlotogora, Joel
- Cotton, Richard G H
Producer: 20111219
In:
Human mutation vol. 32
Availability: No items available.
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11.
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Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). [electronic resource] by
- Povey, Sue
- Al Aqeel, Aida I
- Cambon-Thomsen, Anne
- Dalgleish, Raymond
- den Dunnen, Johan T
- Firth, Helen V
- Greenblatt, Marc S
- Barash, Carol Isaacson
- Parker, Michael
- Patrinos, George P
- Savige, Judith
- Sobrido, Maria-Jesus
- Winship, Ingrid
- Cotton, Richard G H
Producer: 20101216
In:
Human mutation vol. 31
Availability: No items available.
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12.
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Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. [electronic resource] by
- Cotton, Richard G H
- Al Aqeel, Aida I
- Al-Mulla, Fahd
- Carrera, Paola
- Claustres, Mireille
- Ekong, Rosemary
- Hyland, Valentine J
- Macrae, Finlay A
- Marafie, Makia J
- Paalman, Mark H
- Patrinos, George P
- Qi, Ming
- Ramesar, Rajkumar S
- Scott, Rodney J
- Sijmons, Rolf H
- Sobrido, María-Jesús
- Vihinen, Mauno
Producer: 20100305
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 11
Availability: No items available.
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13.
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Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. [electronic resource] by
- Parvari, Ruti
- Hershkovitz, Eli
- Grossman, Nili
- Gorodischer, Rafael
- Loeys, Bart
- Zecic, Alexandra
- Mortier, Geert
- Gregory, Simon
- Sharony, Reuven
- Kambouris, Marios
- Sakati, Nadia
- Meyer, Brian F
- Al Aqeel, Aida I
- Al Humaidan, Abdul Karim
- Al Zanhrani, Fatma
- Al Swaid, Abdulrahman
- Al Othman, Johara
- Diaz, George A
- Weiner, Rory
- Khan, K Tahseen S
- Gordon, Ronald
- Gelb, Bruce D
Producer: 20021224
In:
Nature genetics vol. 32
Availability: No items available.
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14.
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. [electronic resource] by
- Schwarze, Ulrike
- Cundy, Tim
- Pyott, Shawna M
- Christiansen, Helena E
- Hegde, Madhuri R
- Bank, Ruud A
- Pals, Gerard
- Ankala, Arunkanth
- Conneely, Karen
- Seaver, Laurie
- Yandow, Suzanne M
- Raney, Ellen
- Babovic-Vuksanovic, Dusica
- Stoler, Joan
- Ben-Neriah, Ziva
- Segel, Reeval
- Lieberman, Sari
- Siderius, Liesbeth
- Al-Aqeel, Aida
- Hannibal, Mark
- Hudgins, Louanne
- McPherson, Elizabeth
- Clemens, Michele
- Sussman, Michael D
- Steiner, Robert D
- Mahan, John
- Smith, Rosemarie
- Anyane-Yeboa, Kwame
- Wynn, Julia
- Chong, Karen
- Uster, Tami
- Aftimos, Salim
- Sutton, V Reid
- Davis, Elaine C
- Kim, Lammy S
- Weis, Mary Ann
- Eyre, David
- Byers, Peter H
Producer: 20130515
In:
Human molecular genetics vol. 22
Availability: No items available.
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15.
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Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). [electronic resource] by
- Bramswig, Nuria C
- Bertoli-Avella, Aida M
- Albrecht, Beate
- Al Aqeel, Aida I
- Alhashem, Amal
- Al-Sannaa, Nouriya
- Bah, Maissa
- Bröhl, Katharina
- Depienne, Christel
- Dorison, Nathalie
- Doummar, Diane
- Ehmke, Nadja
- Elbendary, Hasnaa M
- Gorokhova, Svetlana
- Héron, Delphine
- Horn, Denise
- James, Kiely
- Keren, Boris
- Kuechler, Alma
- Ismail, Samira
- Issa, Mahmoud Y
- Marey, Isabelle
- Mayer, Michèle
- McEvoy-Venneri, Jennifer
- Megarbane, Andre
- Mignot, Cyril
- Mohamed, Sarar
- Nava, Caroline
- Philip, Nicole
- Ravix, Cecile
- Rolfs, Arndt
- Sadek, Abdelrahim Abdrabou
- Segebrecht, Lara
- Stanley, Valentina
- Trautman, Camille
- Valence, Stephanie
- Villard, Laurent
- Wieland, Thomas
- Engels, Hartmut
- Strom, Tim M
- Zaki, Maha S
- Gleeson, Joseph G
- Lüdecke, Hermann-Josef
- Bauer, Peter
- Wieczorek, Dagmar
Producer: 20180924
In:
Human genetics vol. 137
Availability: No items available.
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16.
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Planning the human variome project: the Spain report. [electronic resource] by
- Kaput, Jim
- Cotton, Richard G H
- Hardman, Lauren
- Watson, Michael
- Al Aqeel, Aida I
- Al-Aama, Jumana Y
- Al-Mulla, Fahd
- Alonso, Santos
- Aretz, Stefan
- Auerbach, Arleen D
- Bapat, Bharati
- Bernstein, Inge T
- Bhak, Jong
- Bleoo, Stacey L
- Blöcker, Helmut
- Brenner, Steven E
- Burn, John
- Bustamante, Mariona
- Calzone, Rita
- Cambon-Thomsen, Anne
- Cargill, Michele
- Carrera, Paola
- Cavedon, Lawrence
- Cho, Yoon Shin
- Chung, Yeun-Jun
- Claustres, Mireille
- Cutting, Garry
- Dalgleish, Raymond
- den Dunnen, Johan T
- Díaz, Carlos
- Dobrowolski, Steven
- dos Santos, M Rosário N
- Ekong, Rosemary
- Flanagan, Simon B
- Flicek, Paul
- Furukawa, Yoichi
- Genuardi, Maurizio
- Ghang, Ho
- Golubenko, Maria V
- Greenblatt, Marc S
- Hamosh, Ada
- Hancock, John M
- Hardison, Ross
- Harrison, Terence M
- Hoffmann, Robert
- Horaitis, Rania
- Howard, Heather J
- Barash, Carol Isaacson
- Izagirre, Neskuts
- Jung, Jongsun
- Kojima, Toshio
- Laradi, Sandrine
- Lee, Yeon-Su
- Lee, Jong-Young
- Gil-da-Silva-Lopes, Vera L
- Macrae, Finlay A
- Maglott, Donna
- Marafie, Makia J
- Marsh, Steven G E
- Matsubara, Yoichi
- Messiaen, Ludwine M
- Möslein, Gabriela
- Netea, Mihai G
- Norton, Melissa L
- Oefner, Peter J
- Oetting, William S
- O'Leary, James C
- de Ramirez, Ana Maria Oller
- Paalman, Mark H
- Parboosingh, Jillian
- Patrinos, George P
- Perozzi, Giuditta
- Phillips, Ian R
- Povey, Sue
- Prasad, Suyash
- Qi, Ming
- Quin, David J
- Ramesar, Rajkumar S
- Richards, C Sue
- Savige, Judith
- Scheible, Dagmar G
- Scott, Rodney J
- Seminara, Daniela
- Shephard, Elizabeth A
- Sijmons, Rolf H
- Smith, Timothy D
- Sobrido, María-Jesús
- Tanaka, Toshihiro
- Tavtigian, Sean V
- Taylor, Graham R
- Teague, Jon
- Töpel, Thoralf
- Ullman-Cullere, Mollie
- Utsunomiya, Joji
- van Kranen, Henk J
- Vihinen, Mauno
- Webb, Elizabeth
- Weber, Thomas K
- Yeager, Meredith
- Yeom, Young I
- Yim, Seon-Hee
- Yoo, Hyang-Sook
Producer: 20090706
In:
Human mutation vol. 30
Availability: No items available.
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