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Nursel H Elcioglu

Showing results (21-30 of 34) with videos related to

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European Journal of Medical Genetics|August 17, 2021
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare diseaseKatharina Khuller, Gökhan Yigit, Carolina Martínez Grijalva, et al.
Orphanet Journal of Rare Diseases|January 25, 2012
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutationsElisa A Colombo, J Fernando Bazan, Gloria Negri, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndromeYavuz Bayram, Davut Pehlivan, Ender Karaca, et al.
European Journal of Pediatrics|July 31, 2025
Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1Burcu Yeter, Yasemin Kendir Demirkol, Esra Usluer, et al.
Clinical Dysmorphology|December 4, 2018
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patientsSheela Nampoothiri, Nursel H Elcioglu, Suleyman S Koca, et al.
Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.
Nature Genetics|November 24, 2015
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfismMargaret E Harley, Olga Murina, Andrea Leitch, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

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Pageof 4
European Journal of Medical Genetics|August 17, 2021
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare diseaseKatharina Khuller, Gökhan Yigit, Carolina Martínez Grijalva, et al.
Orphanet Journal of Rare Diseases|January 25, 2012
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutationsElisa A Colombo, J Fernando Bazan, Gloria Negri, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndromeYavuz Bayram, Davut Pehlivan, Ender Karaca, et al.
European Journal of Pediatrics|July 31, 2025
Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1Burcu Yeter, Yasemin Kendir Demirkol, Esra Usluer, et al.
Clinical Dysmorphology|December 4, 2018
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patientsSheela Nampoothiri, Nursel H Elcioglu, Suleyman S Koca, et al.
Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.
Nature Genetics|November 24, 2015
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfismMargaret E Harley, Olga Murina, Andrea Leitch, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
Pageof 4