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Oliver Bartsch

Showing results (31-40 of 118) with videos related to

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American Journal of Medical Genetics. Part A|July 30, 2025
Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular BasisAnna-Christina Pansa, Mareike Selig, Markus Wingendorf, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Inheritance and variable expression in Rubinstein-Taybi syndromeOliver Bartsch, Wolfram Kress, Olga Kempf, et al.
The Turkish Journal of Pediatrics|January 12, 2005
Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomaliesMehmet Ali Ergun, Sevim Balci, Ece Konaç, et al.
BMC Ophthalmology|January 12, 2021
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature reviewHeidi Diel, Can Ding, Franz Grehn, et al.
BMC Ophthalmology|January 23, 2021
Correction to: First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature reviewHeidi Diel, Can Ding, Franz Grehn, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
Oculoectodermal syndrome: report of a new case with a broad clinical spectrumDeniz Aslan, Rustu Fikret Akata, Julia Schröder, et al.
Clinical Dysmorphology|July 19, 2003
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotoniaEva Morava, Oliver Bartsch, Márta Czakó, et al.
Human Genetics|July 16, 2005
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTSOliver Bartsch, Stefanie Schmidt, Marion Richter, et al.
Zeitschrift Fur Geburtshilfe Und Neonatologie|December 20, 2019
[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome]Sarah Westeppe, Anna Dionysopoulou, Andre Kidszun, et al.
Pediatric Dermatology|February 12, 2004
A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenailsSevim Balci, Seher Bostanci, Pelin Ekmekci, et al.
Pageof 12

Showing results (31-40 of 118) with videos related to

Sort By:
Pageof 12
American Journal of Medical Genetics. Part A|July 30, 2025
Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular BasisAnna-Christina Pansa, Mareike Selig, Markus Wingendorf, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Inheritance and variable expression in Rubinstein-Taybi syndromeOliver Bartsch, Wolfram Kress, Olga Kempf, et al.
The Turkish Journal of Pediatrics|January 12, 2005
Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomaliesMehmet Ali Ergun, Sevim Balci, Ece Konaç, et al.
BMC Ophthalmology|January 12, 2021
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature reviewHeidi Diel, Can Ding, Franz Grehn, et al.
BMC Ophthalmology|January 23, 2021
Correction to: First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature reviewHeidi Diel, Can Ding, Franz Grehn, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
Oculoectodermal syndrome: report of a new case with a broad clinical spectrumDeniz Aslan, Rustu Fikret Akata, Julia Schröder, et al.
Clinical Dysmorphology|July 19, 2003
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotoniaEva Morava, Oliver Bartsch, Márta Czakó, et al.
Human Genetics|July 16, 2005
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTSOliver Bartsch, Stefanie Schmidt, Marion Richter, et al.
Zeitschrift Fur Geburtshilfe Und Neonatologie|December 20, 2019
[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome]Sarah Westeppe, Anna Dionysopoulou, Andre Kidszun, et al.
Pediatric Dermatology|February 12, 2004
A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenailsSevim Balci, Seher Bostanci, Pelin Ekmekci, et al.
Pageof 12