Որոնման արդյունքները - Merih Berberoğlu
- Ցուցադրվում են 1 - 9 արդյունքները 9
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Syndromic Disorders with Short Stature Zeynep Şıklar, Merih Berberoğlu
Հրապարակվել է 2014Revisão -
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Severe Growth Hormone Insensitivity Resulting from Total Absence of Signal Transducer and Activator of Transcription 5b Vivian Hwa, Brian M. Little, Pelin Adıyaman, Eric M. Kofoed, Katherine L. Pratt, Gönül Öçal, Merih Berberoğlu, Ron G. Rosenfeld
Հրապարակվել է 2005Artigo -
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Spondyloocular Syndrome: Novel Mutations in <i>XYLT2</i> Gene and Expansion of the Phenotypic Spectrum Fulya Taylan, Alice Costantini, Nicole Coles, Minna Pekkinen, Elise Héon, Zeynep Şıklar, Merih Berberoğlu, Anders Kämpe, Ertuğrul Kıykım, Giedre Grigelioniené, Beyhan Tüysüz, Outi Mäkitie
Հրապարակվել է 2016Artigo -
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Human and mouse<i>TPIT</i>gene mutations cause early onset pituitary ACTH deficiency Anne-Marie Pulichino, Sophie Vallette-Kasic, Catherine Couture, Yves Gauthier, Thierry Brue, M David, G Malpuech, Cheri Deal, Guy Van Vliet, Monique De Vroede, Felix G. Riepe, Carl‐Joachim Partsch, Wolfgang G. Sippell, Merih Berberoğlu, Begüm Atasay, Jacques Drouin
Հրապարակվել է 2003Artigo -
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Recessively Inherited<i>LRBA</i>Mutations Cause Autoimmunity Presenting as Neonatal Diabetes Matthew B. Johnson, Elisa De Franco, Hana Lango Allen, Aisha Al Senani, Nancy Samir Elbarbary, Zeynep Şıklar, Merih Berberoğlu, Zineb Imane, Alireza Haghighi, Zahra Razavi, Irfan Ullah, Saif Al-Yaarubi, Daphne Gardner, Ayla Güven, Sian Ellard, Andrew T. Hattersley, Sarah E. Flanagan
Հրապարակվել է 2017Artigo -
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Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation Sarah E. Flanagan, Weijia Xie, Richard Caswell, Annet Damhuis, Christine Vianey‐Saban, Teoman Akçay, Feyza Darendelıler, Firdevs Baş, Ayla Güven, Zeynep Şıklar, Gönül Öçal, Merih Berberoğlu, Nuala Murphy, Maureen J. O’Sullivan, Andrew Green, Peter Clayton, Indraneel Banerjee, Peter T. Clayton, Khalid Hussain, Michael N. Weedon, Sian Ellard
Հրապարակվել է 2012Artigo -
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Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by<i>TPIT</i>Gene Mutations Sophie Vallette-Kasic, Thierry Brue, Anne-Marie Pulichino, Magali Gueydan, Anne Barlier, M David, Marc Nicolino, G Malpuech, Pierre Déchelotte, Cheri Deal, Guy Van Vliet, Monique De Vroede, Felix G. Riepe, Carl‐Joachim Partsch, Wolfgang G. Sippell, Merih Berberoğlu, Begüm Atasay, Francis de Zegher, Dominique Beckers, Jennifer Kyllo, Patricia A. Donohoue, Martin Faßnacht, Stefanie Hahner, Bruno Allolio, C. Noordam, Leo Dunkel, Matti Hero, B. Pigeon, Jacques Weill, Sevket Yigit, Raja Brauner, Juan J. Heinrich, Elizabeth A. Cummings, Christie Riddell, A Enjalbert, Jacques Drouin
Հրապարակվել է 2005Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Gene
Genetics
Medicine
Internal medicine
Mutation
Endocrinology
Hormone
Pediatrics
Biochemistry
Chemistry
Exome sequencing
Growth hormone
Immunology
Missense mutation
Nonsense mutation
Phenotype
Short stature
Acoustics
Activator (genetics)
Alkaline phosphatase
Audiology
Autoimmunity
Biophysics
Bone age
Bone maturation
Cell biology
Computational biology
Corticotropic cell
Delayed puberty