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Serap Emre

Showing results (1-10 of 10) with videos related to

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Human Mutation|November 21, 2002
Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) geneMugen Terzioglu, Aysegul Tokatli, Turgay Coskun, et al.
European Journal of Medical Genetics|July 1, 2008
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) geneSerap Emre, Figen Gürakan, Aysel Yüce, et al.
European Journal of Dermatology : EJD|June 2, 2007
Multiple endocrine neoplasia type 2b associated with lichen nitidusAsli Altaykan, Sibel Ersoy-Evans, Serap Emre, et al.
The Turkish Journal of Pediatrics|February 23, 2002
Biochemical and molecular analysis of mucopolysaccharidoses in TurkeySerap Emre, Mügen Terzioğlu, Turgay Coşkun, et al.
Human Mutation|January 17, 2002
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and BSerap Emre, Mugen Terzioglu, Aysegul Tokatli, et al.
The Turkish Journal of Pediatrics|January 26, 2012
Outcome of enzyme replacement therapy in Turkish patients with Gaucher disease: does late intervention affect the response?Zeynep Arikan-Ayyildiz, Aysel Yüce, Serap Emre, et al.
European Journal of Medical Genetics|March 24, 2010
Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 geneSerap Emre, Neşe Unver, Sibel Ersoy Evans, et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology|January 4, 2014
Chanarin-dorfman syndrome with multi-system involvement in two siblingsSeçil Arslansoyu Çamlar, Pınar Gençpınar, Balahan Makay, et al.
Human Molecular Genetics|January 5, 2002
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1Florence Jobard, Caroline Lefèvre, Aysen Karaduman, et al.
The Journal of Investigative Dermatology|December 2, 2006
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13Fabienne Lesueur, Bakar Bouadjar, Caroline Lefèvre, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Human Mutation|November 21, 2002
Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) geneMugen Terzioglu, Aysegul Tokatli, Turgay Coskun, et al.
European Journal of Medical Genetics|July 1, 2008
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) geneSerap Emre, Figen Gürakan, Aysel Yüce, et al.
European Journal of Dermatology : EJD|June 2, 2007
Multiple endocrine neoplasia type 2b associated with lichen nitidusAsli Altaykan, Sibel Ersoy-Evans, Serap Emre, et al.
The Turkish Journal of Pediatrics|February 23, 2002
Biochemical and molecular analysis of mucopolysaccharidoses in TurkeySerap Emre, Mügen Terzioğlu, Turgay Coşkun, et al.
Human Mutation|January 17, 2002
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and BSerap Emre, Mugen Terzioglu, Aysegul Tokatli, et al.
The Turkish Journal of Pediatrics|January 26, 2012
Outcome of enzyme replacement therapy in Turkish patients with Gaucher disease: does late intervention affect the response?Zeynep Arikan-Ayyildiz, Aysel Yüce, Serap Emre, et al.
European Journal of Medical Genetics|March 24, 2010
Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 geneSerap Emre, Neşe Unver, Sibel Ersoy Evans, et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology|January 4, 2014
Chanarin-dorfman syndrome with multi-system involvement in two siblingsSeçil Arslansoyu Çamlar, Pınar Gençpınar, Balahan Makay, et al.
Human Molecular Genetics|January 5, 2002
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1Florence Jobard, Caroline Lefèvre, Aysen Karaduman, et al.
The Journal of Investigative Dermatology|December 2, 2006
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13Fabienne Lesueur, Bakar Bouadjar, Caroline Lefèvre, et al.
Pageof 1