Göknur Haliloğlu - Concepedia

Author

Göknur Haliloğlu

Also Known As

Dilek Yılmaz, G Haliloglu, G Haliloğlu, G. Haliloglu, G. Haliloğlu, Goknur Haliloglu, Goknur Haliloğlu, Göknur Haliloglu, Göknur Haliloğlu, Göknur Haliloǧlu

225

Publications

4.6K

Citations

H-Index

122

Concepts

All Affiliations

Hacettepe University Hacettepe University Hospital Boston Children's Hospital University College London Inserm

About

Göknur Haliloğlu is an author at Hacettepe University specializing in medicine, neuropathology, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	23	39	2K
2	Health Sciences	3	3	61
3	Social Sciences	3	3	117
4	Education	1	1	16
5	Public Health	1	1	13

Göknur Haliloğlu

Publications

3.5K

Citations

H-Index

Page 1

	Year	Citations
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Journal of Medical Genetics	2015	293
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision Patrick Forny, Friederike Hörster, Diana Ballhausen, Journal of Inherited Metabolic Disease Critical Care MedicineTransplant OutcomesMetabolic DisorderPropionic AcidaemiaExpert Panel	2021	247
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsFrequent CausePathology	2013	220
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan Elizabeth Stevens, Keren Carss, Sebahattin Çirak, The American Journal of Human Genetics Mendelian DisorderDevelopmental BiologyGenetic DisorderMolecular BiologyDegenerative Disease	2013	192
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene Gökhan Uyanık, Pervin Dinçer, Tobias Willer, Neuromuscular Disorders Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathology	2005	178
SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi, The American Journal of Human Genetics CardiomyopathyHeart FailurePathologyDilated CardiomyopathyMedicine	2014	162
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo, Molecular Genetics and Metabolism	2013	138
Early onset collagen VI myopathies: Genetic and clinical correlations Laura Briñas, Pascale Richard, Susana Quijano‐Roy, Annals of Neurology	2010	132
<i>FKRP</i> gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts Haluk Topaloğlu, Martin Brockington, Yeliz Yuva, Neurology	2003	130
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth Emily J. Todd, Kyle S. Yau, Royston Ong, Orphanet Journal of Rare Diseases	2015	113

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