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Eda Utine

Showing results (31-40 of 155) with videos related to

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The Turkish Journal of Pediatrics|November 2, 2017
A Turkish BCS1L mutation causes GRACILE-like disorderEsra Serdaroğlu, Şahin Takcı, Heike Kotarsky, et al.
The Turkish Journal of Pediatrics|January 13, 2022
The rare reason of pain in hip girdle: Mucolipidosis type 3 gammaAbdulkerim Kolkıran, Beren Karaosmanoğlu, Zihni Ekim Taşkıran, et al.
Korean Journal of Family Medicine|April 1, 2017
A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams SyndromeÖzlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, et al.
The Turkish Journal of Pediatrics|June 28, 2012
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 geneEsra Kiliç, Yasemin Alanay, Eda Utine, et al.
Birth Defects Research|December 13, 2023
CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a caseTutku Soyer, Özlem Boybeyi, Beren Karaosmanoğlu, et al.
The Turkish Journal of Pediatrics|October 13, 2009
Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromesPelin Ozlem Simşek, Gülen Eda Utine, Ayfer Alikaşifoğlu, et al.
American Journal of Medical Genetics. Part A|June 11, 2005
Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observationsYasemin Alanay, Dilek Aktaş, Eda Utine, et al.
Journal of Medical Case Reports|July 28, 2022
Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case reportEzgi Aysu Şahin, Ekim Zihni Taşkıran, Pelin Özlem Şimşek Kiper, et al.
European Journal of Medical Genetics|February 14, 2024
A rare skeletal dysplasia in the etiology of severe scoliosis: DiaphanospondylodysostosisTuğba Daşar, Adalet Elçin Yıldız, Gökhan Demirkıran, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosisGülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, et al.
Pageof 16

Showing results (31-40 of 155) with videos related to

Sort By:
Pageof 16
The Turkish Journal of Pediatrics|November 2, 2017
A Turkish BCS1L mutation causes GRACILE-like disorderEsra Serdaroğlu, Şahin Takcı, Heike Kotarsky, et al.
The Turkish Journal of Pediatrics|January 13, 2022
The rare reason of pain in hip girdle: Mucolipidosis type 3 gammaAbdulkerim Kolkıran, Beren Karaosmanoğlu, Zihni Ekim Taşkıran, et al.
Korean Journal of Family Medicine|April 1, 2017
A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams SyndromeÖzlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, et al.
The Turkish Journal of Pediatrics|June 28, 2012
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 geneEsra Kiliç, Yasemin Alanay, Eda Utine, et al.
Birth Defects Research|December 13, 2023
CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a caseTutku Soyer, Özlem Boybeyi, Beren Karaosmanoğlu, et al.
The Turkish Journal of Pediatrics|October 13, 2009
Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromesPelin Ozlem Simşek, Gülen Eda Utine, Ayfer Alikaşifoğlu, et al.
American Journal of Medical Genetics. Part A|June 11, 2005
Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observationsYasemin Alanay, Dilek Aktaş, Eda Utine, et al.
Journal of Medical Case Reports|July 28, 2022
Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case reportEzgi Aysu Şahin, Ekim Zihni Taşkıran, Pelin Özlem Şimşek Kiper, et al.
European Journal of Medical Genetics|February 14, 2024
A rare skeletal dysplasia in the etiology of severe scoliosis: DiaphanospondylodysostosisTuğba Daşar, Adalet Elçin Yıldız, Gökhan Demirkıran, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosisGülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, et al.
Pageof 16