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The Turkish Journal of Pediatrics
|
November 2, 2017
A Turkish BCS1L mutation causes GRACILE-like disorder
Esra 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 gamma
Abdulkerim 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 Syndrome
Özlem 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 gene
Esra 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 case
Tutku Soyer, Özlem Boybeyi, Beren Karaosmanoğlu, et al.
The Turkish Journal of Pediatrics
|
October 13, 2009
Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes
Pelin 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 observations
Yasemin 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 report
Ezgi 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: Diaphanospondylodysostosis
Tuğba 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 ptosis
Gülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, et al.
Page
of 16
Search research articles
Search
Showing results (31-40 of 155) with videos related to
Sort By:
Page
of 16
The Turkish Journal of Pediatrics
|
November 2, 2017
A Turkish BCS1L mutation causes GRACILE-like disorder
Esra 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 gamma
Abdulkerim 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 Syndrome
Özlem 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 gene
Esra 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 case
Tutku Soyer, Özlem Boybeyi, Beren Karaosmanoğlu, et al.
The Turkish Journal of Pediatrics
|
October 13, 2009
Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes
Pelin 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 observations
Yasemin 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 report
Ezgi 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: Diaphanospondylodysostosis
Tuğba 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 ptosis
Gülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, et al.
Page
of 16