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2 Aktuelle Nachrichten

Researchers Discover New Genetic Brain Disorder in Humans

A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is...

Scientists Discover New Genetic Forms of Neurodegeneration

In a study published in the January 31, issue of Science, an international team led by scientists at the University of California, San Diego School of...

1 Profile in Sozialen Netzwerken

LinkedIn: Hulya Kayserili | LinkedIn

Hulya Kayserili adlı kullanıcının (Türkiye) LinkedIn'deki profesyonel profilini görüntüleyin. LinkedIn, Hulya Kayserili gibi profesyonellere, tavsiye edilen iş ...

1 Projekte

Project MUSE - Cystic Fibrosis Mutation and Associated Haplotypes in...

Tuncer Onay, 1 Julian Zielenski, 2 Ozlem Topaloglu, 1 Nalan Gokgoz, 3Hulya Kayserili, 4 Memnune Yuksel Apak, 4 Yildiz Camcioglu, 5 Haluk Cokugras, ...

6 Bücher zum Namen

中国图书进出口(集团)总公司

外文期刊文章目次检索结果

Ciliopathies: A Reference for Clinicians - Google Books

The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of...

Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal...

The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs

Prenatal Diagnosis: Morphology Scan and Invasive Methods - Google...

This book provides detailed and comprehensive coverage on various aspects of prenatal diagnosis-with particular emphasis on sonographic and molecular...

3 Wissenschaftliche Publikationen

Novel MASP1 mutations are associated with an expanded phenotype in...

3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral...

Deficiency for the ER-stress transducer OASIS causes severe recessive...

... Fransiska Malfait, Sanne D'hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hulya Kayserili and Paul J ...

“Homozygous, and compound heterozygous mutation in 3 Turkish family...

Fahrettin Uysal,; Burcu Turkgenc,; Guven Toksoy,; Ozlem M. Bostan,; Elif Evke,; Oya Uyguner,; Cengiz Yakicier,; Hulya Kayserili,; Ergun Cil and; Sehime G. TemelEmail author. BMC Medical GeneticsBMC series – open, inclusive and trusted :114. https://doi.org s © The Author(s)

2 Allgemeine Veröffentlichungen

Deficiency for the ER-stress transducer OASIS causes severe recessive...

Anne De Paepe. Center for Medical GeneticsGhent University Hospital. Hulya Kayserili,. Hulya Kayserili. Department of Medical Genetics, Istanbul Medical ...

Hulya Kayserili - Wikidata

researcher

1 Meinungen & Artikel

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy...

Severe congenital development defects such as Jeune syndrome can result from the malfunction of primary cilia and dynein. Here Schmidts et al. report unique...

34 Webfunde aus dem Netz

Hulya Kayserili | LinkedIn

View Hulya Kayserili's professional profile on LinkedIn. LinkedIn is the world's largest business network, helping professionals like Hulya Kayserili discover ...

‪Hulya Kayserili‬ - ‪Google Scholar‬

‪Professor of medical genetics, Koc university School of Medicine‬ - ‪‪Cytowany przez ‬‬ - ‪dysmorphology‬ - ‪rare single gene disorders‬ - ‪prenatal...

Dario Garcia Lupiañez - Google Scholar Citations

Katerina Kraft,; F. David Carmona,; Francisco Javier Barrionuevo Jimenez,; Axel Visel,; Bernd Timmermann,; Marco Osterwalder,; Peter Krawitz,; Hulya Kayserili, ...

Profiles

Hulya Kayserili. Professor of medical genetics, Koc university School of Medicine. Verified email at kuh.ku.edu.tr. Cited by dysmorphology rare single gene disorders prenatal genetics developmental genetics ...

Hulya Kayserili | LinkedIn

Hulya Kayserili Prof. Dr. at Istanbul University Location Turkey Industry Higher Education Join LinkedIn and access Hulya Kayserili’s full profile. As a LinkedIn ...

Orphanet: Dr Hulya KAYSERILI

The portal for rare diseases and orphan drugs

Evaluation of mental retardation - Part 1: Etiologic ...

J Pediatr Neurosci, Official scientific journal of the Association of Otolaryngologists of India

"Clinical manifestations of 17 patients affected with...

By Piranit Kantaputra, Hulya Kayserili, Yeliz Guven, et al., Published on

Hulya Kayserili

Hulya Kayserili. prof. Istanbul University, Istanbul Faculty of Medicine Department of Medical Genetics Papers: CYP21A2 Gene Aberrations in Patients with ...

Ashleigh Schaffer | Yeo Lab

... Faezeh Mojahedi, Hulya Kayserili, Amira Masri, Laila Bastaki, Samia Temtamy, Isabelle Desguerre, Jean-Laurent Casanova, Murat Gunel, Stacey B. Gabriel, ...

COMPLEX PHENOTYPE PUZZLE CAN BE SOLVED BY WHOLE EXOME SEQUENCING -...

includes COMPLEX PHENOTYPE PUZZLE CAN BE SOLVED BY WHOLE EXOME S by Hulya Kayserili, Esra Borklu, Umut Altu. Click to explore.

Evaluation of coronary artery abnormalities in Williams syndrome...

Yakup Ergul, Kemal Nisli, Hulya Kayserili, Birsen Karaman, Seher Basaran, Memduh Dursun, Ebru Yilmaz, Nurhan Ergul, Seher Nilgun Unal, Aygun Dindar.

Genotypic and phenotypic analysis of 396 individuals with mutations...

... Stephen Braddock and Karen Brookhyser and Barbara Burton and Harald Gaspar and Art Grix and Dafne Horovitz and Erin Kanetzke and Hulya Kayserili and ...

Başlık dizinini tara - Dergipark

... of Zinc Oxide Thin Films Grown on Sapphire by Chemical Vapor Deposition, Özet PDF ... Integration and Cogeneration in Ammonium Nitrate Production Complexes Yusuf Ozturkmen, Mehmet Demirhan, Hulya Kayserili, Onder Kilicoglu, ...

[Research Article] Exome Sequencing Links Corticospinal Motor Neuron...

Analysis of hereditary spastic paraplegia genes identifies mutants involved in human neurodegenerative disease. [Also see Perspective by Singleton] Authors:...

Speakers | BM 2019

... Wieland Huttner, MPI-CGB, Dresden; Naomi Josman, University of Haifa, Haifa; Hulya Kayserili Karabey, Koç University School of Medicine, ...

Journal of Pediatric Neurosciences: Table of Contents

[ABSTRACT] [HTML Full text] [PDF] [Citations (2) ] [Sword Plugin for Repository]Beta. Evaluation of mental retardation - Part 2: The factors that elucidate the etiologic diagnosis of the patients with mental retardation or multiple congenital abnormality and mental retardation, p Adnan Yuksel, Hulya Kayserili, Gozde Yesil, ...

Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic...

Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis. Oonagh Dowling, Analisa Difeo, Maria C. Ramirez, Turgut Tukel, Goutham Narla, Luisa Bonafe, Hulya Kayserili, Memnune Yuksel-Apak, Amy S. Paller, Karen ...

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert...

Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben-Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M. De Jong, Hulya Kayserili, Gonul Ogur, Andrea ...

Novel MASP1 mutations are associated with an expanded phenotype in...

author = "Tahir Atik and Asuman Koparir and Guney Bademci and Joseph Foster and Umut Altunoglu and Mutlu, {G\{"u}l Yesiltepe} and Sarah Bowdin and Nursel Elcioglu and Tayfun, {Gulsen A} and Atik, {Sevinc Sahin} and Mustafa Ozen and Ferda Ozkinay and Yasemin Alanay and Hulya Kayserili and Steffen Thiel and ...

Personensuche zu Hulya Kayserili & mehr

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