Kết quả tìm kiếm - Merih Berberoğlu
- Đang hiển thị 1 - 9 kết quả của 9
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1
Precocious Puberty and Normal Variant Puberty: Definition, etiology, diagnosis and current management - Review Bằng Merih Berberoğlu
Được phát hành 2009Revisão -
2
Syndromic Disorders with Short Stature Bằng Zeynep Şıklar, Merih Berberoğlu
Được phát hành 2014Revisão -
3
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4
Severe Growth Hormone Insensitivity Resulting from Total Absence of Signal Transducer and Activator of Transcription 5b Bằng Vivian Hwa, Brian M. Little, Pelin Adıyaman, Eric M. Kofoed, Katherine L. Pratt, Gönül Öçal, Merih Berberoğlu, Ron G. Rosenfeld
Được phát hành 2005Artigo -
5
Spondyloocular Syndrome: Novel Mutations in <i>XYLT2</i> Gene and Expansion of the Phenotypic Spectrum Bằng Fulya Taylan, Alice Costantini, Nicole Coles, Minna Pekkinen, Elise Héon, Zeynep Şıklar, Merih Berberoğlu, Anders Kämpe, Ertuğrul Kıykım, Giedre Grigelioniené, Beyhan Tüysüz, Outi Mäkitie
Được phát hành 2016Artigo -
6
Human and mouse<i>TPIT</i>gene mutations cause early onset pituitary ACTH deficiency Bằng 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
Được phát hành 2003Artigo -
7
Recessively Inherited<i>LRBA</i>Mutations Cause Autoimmunity Presenting as Neonatal Diabetes Bằng 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
Được phát hành 2017Artigo -
8
Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation Bằng 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
Được phát hành 2012Artigo -
9
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by<i>TPIT</i>Gene Mutations Bằng 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
Được phát hành 2005Artigo
Công cụ tìm kiếm:
Các môn học liên quan
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