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Eda Utine

Showing results (101-110 of 155) with videos related to

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Molecular Syndromology|April 8, 2020
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)Gizem Ürel-Demir, Özlem Akgün-Doğan, Sümeyra Oğuz, et al.
Fetal and Pediatric Pathology|July 16, 2019
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic TestingNaz Guleray, Can Kosukcu, Zihni Ekim Taskiran, et al.
American Journal of Medical Genetics. Part A|December 1, 2020
A rare cause of syndromic short stature: 3M syndrome in three familiesEsra Isik, Duygu Arican, Tahir Atik, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|December 25, 2017
Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X RegistryGülen Eda Utine, Pelin Özlem Şimşek-Kiper, Özlem Akgün-Doğan, et al.
European Journal of Medical Genetics|October 4, 2022
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathyTuğba Daşar, Pelin Özlem Şimşek-Kiper, Ekim Zihni Taşkıran, et al.
Bone|August 10, 2014
Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's diseaseDorit Naot, Ally Choi, David Shaun Musson, et al.
European Journal of Medical Genetics|March 22, 2017
HERC1 mutations in idiopathic intellectual disabilityG Eda Utine, Ekim Z Taşkıran, Can Koşukcu, et al.
American Journal of Medical Genetics. Part A|November 9, 2011
A newborn with overlapping features of AEC and EEC syndromesTolga Hasan Celik, Ayse Buyukcam, Pelin Ozlem Simsek-Kiper, et al.
Pediatric Blood & Cancer|October 10, 2013
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesisSule Unal, Yasemin Alanay, Mualla Cetin, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|August 19, 2021
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral SpectrumNaz Güleray, Can Koşukcu, Sümeyra Oğuz, et al.
Pageof 16

Showing results (101-110 of 155) with videos related to

Sort By:
Pageof 16
Molecular Syndromology|April 8, 2020
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)Gizem Ürel-Demir, Özlem Akgün-Doğan, Sümeyra Oğuz, et al.
Fetal and Pediatric Pathology|July 16, 2019
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic TestingNaz Guleray, Can Kosukcu, Zihni Ekim Taskiran, et al.
American Journal of Medical Genetics. Part A|December 1, 2020
A rare cause of syndromic short stature: 3M syndrome in three familiesEsra Isik, Duygu Arican, Tahir Atik, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|December 25, 2017
Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X RegistryGülen Eda Utine, Pelin Özlem Şimşek-Kiper, Özlem Akgün-Doğan, et al.
European Journal of Medical Genetics|October 4, 2022
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathyTuğba Daşar, Pelin Özlem Şimşek-Kiper, Ekim Zihni Taşkıran, et al.
Bone|August 10, 2014
Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's diseaseDorit Naot, Ally Choi, David Shaun Musson, et al.
European Journal of Medical Genetics|March 22, 2017
HERC1 mutations in idiopathic intellectual disabilityG Eda Utine, Ekim Z Taşkıran, Can Koşukcu, et al.
American Journal of Medical Genetics. Part A|November 9, 2011
A newborn with overlapping features of AEC and EEC syndromesTolga Hasan Celik, Ayse Buyukcam, Pelin Ozlem Simsek-Kiper, et al.
Pediatric Blood & Cancer|October 10, 2013
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesisSule Unal, Yasemin Alanay, Mualla Cetin, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|August 19, 2021
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral SpectrumNaz Güleray, Can Koşukcu, Sümeyra Oğuz, et al.
Pageof 16