תוצאות חיפוש - Ataf Sabir
- Showing 1 - 4 results of 4
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1
Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome מאת Elizabeth Forsythe, Kathryn Sparks, Sunayna Best, Sarah Borrows, Bethan E. Hoskins, Ataf Sabir, Timothy Barrett, Denise Williams, Shehla Mohammed, David Goldsmith, David V. Milford, Detlef Böckenhauer, Lukas Foggensteiner, Philip L. Beales
יצא לאור 2016Artigo -
2
Influence of autozygosity on common disease risk across the phenotypic spectrum מאת Daniel Malawsky, Eva van Walree, Benjamin Meir Jacobs, Teng Hiang Heng, Qin Huang, Ataf Sabir, Saadia Rahman, Saghira Malik Sharif, Ahsan Khan, Maša Umićević Mirkov, Hiroyuki Kuwahara, Xin Gao, Fowzan S. Alkuraya, Daniëlle Posthuma, William G. Newman, Chris Griffiths, Rohini Mathur, David A. van Heel, Sarah Finer, Jared O’Connell, Hilary C. Martin
יצא לאור 2023Artigo -
3
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia מאת Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu‐Wai‐Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjærg, Jianhua Chen, Annabel Chaussenot, Virginia Nunes, Bess A. Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Véronique Paquis‐Flucklinger, Tarekign Geberhiwot, Wojciech Młynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumihiko Urano, Robert K. Semple, Richard Sinnott, Timothy Barrett
יצא לאור 2017Artigo -
4
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling מאת Yuh‐Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T. Pagnamenta, Reza Maroofian, Christian Beetz, H. van Duyvenvoorde, Maria Lisa Dentici, Peter Lauffer, Sadeq Vallian, Andrea Ciolfi, Simone Pizzi, Peter Bauer, Nana‐Maria Grüning, Emanuele Bellacchio, Andrea Del Fattore, Stefania Petrini, Ranad Shaheen, Dov Tiosano, Rana Halloun, Ben Pode‐Shakked, Hatice Mutlu Albayrak, Emregül Işık, Jan M. Wit, Marcus Dittrich, Bruna Lucheze Freire, Débora Romeo Bertola, Alexander A.L. Jorge, Ortal Barel, Ataf Sabir, Amal M.J. Al Tenaiji, Sulaima Mhd Taji, Nouriya Al‐Sannaa, Hind Y. Al-Abdulwahed, M. Cristina Digilio, Melita Irving, Yair Anikster, Gandham SriLakshmi Bhavani, Katta M. Girisha, Thomas Haaf, Jenny C. Taylor, Bruno Dallapiccola, Fowzan S. Alkuraya, Ruey‐Bing Yang, Marco Tartaglia
יצא לאור 2020Artigo
כלי חיפוש:
נושאים קשורים
Biology
Gene
Genetics
Phenotype
Disease
Internal medicine
Medicine
Atrophy
Bardet–Biedl syndrome
Bioinformatics
Bone morphogenetic protein
Bone morphogenetic protein 5
Bone morphogenetic protein 7
Cell biology
Computer science
Database
Diabetes mellitus
Endocrinology
Evolutionary biology
Function (biology)
Genotype
Intensive care medicine
Kidney disease
Locus (genetics)
Loss function
Pediatrics
Type 2 diabetes
Wolfram syndrome