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Intergen (Turkey) | Researchclopedia

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Intergen (Turkey)

Ankaracompany

390

Works

4,545

Citations

30

h-index

Top Research Topics

Metabolism and Genetic Disorders Immunodeficiency and Autoimmune Disorders Lysosomal Storage Disorders Research

Top Researchers

Kenneth S. Kornman University of Michigan

203 works28,246 citationsh-index: 69

Recent Research

Prolonged episodic ataxia associated with a SCN2A variant: intrafamilial phenotypic heterogeneity and adult vestibulo-cerebellar presentation

Halil Onder,MEHMET ERANİL,et al.

20260 citations

Genomics and Rare Diseases

Prenatal Screening and Diagnostics

Genetics and Neurodevelopmental Disorders

Mitochondrial Function and Pathology

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Sexual Differentiation and Disorders

Neurogenetic and Muscular Disorders Research

Pancreatic function and diabetes

Reproductive Biology and Fertility

Marc‐André Sirard Defence Research and Development Canada

500 works18,206 citationsh-index: 72

Jacques Tremblay Centre hospitalier universitaire de Québec

225 works8,936 citationsh-index: 52

Burak Yılmaz University of Bern

408 works8,624 citationsh-index: 46

Safa Barış Center for Translational Molecular Medicine

262 works5,485 citationsh-index: 37

Turgay Coşkun Intergen (Turkey)

275 works4,621 citationsh-index: 33

The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants

Serdar Göktaş,Ozlem KALAYCIK SENGUL,et al.

20260 citations

Evaluation of Clinically Overlapping Prader-Willi and Prader-Willi-Like Syndromes Using MS-MLPA and aCGH

Pınar Bahşi,Sezin Yakut Uzuner,et al.

20260 citations

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility

Lama Alabdi,Abdullah Sezer,et al.

20260 citations

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace,Carlos González,et al.

20260 citations

Late-onset TK2 deficiency in adults: Long-term clinical outcomes of deoxynucleoside therapy

Hacer Durmus,Asuman Gedikbaşı,et al.

20260 citations