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American Journal of Medical Genetics. Part A
|
July 10, 2020
Mutation in CEP135 causing primary microcephaly and subcortical heterotopia
Daniel Bamborschke, Hülya-Sevcan Daimagüler, Andreas Hahn, et al.
Neuropediatrics
|
July 19, 2019
Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy
Daniel Bamborschke, Matthias Pergande, Hülya Sevcan Daimagüler, et al.
Brain & Development
|
March 5, 2018
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation
Daniel Bamborschke, Matthias Pergande, Kerstin Becker, et al.
American Journal of Medical Genetics. Part A
|
October 13, 2020
Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours
Daniel Bamborschke, Özkan Özdemir, Mona Kreutzer, et al.
Brain & Development
|
November 7, 2020
PNPT1 mutations may cause Aicardi-Goutières-Syndrome
Daniel Bamborschke, Mona Kreutzer, Anne Koy, et al.
Brain Communications
|
September 22, 2025
Biallelic <i>CRELD1</i> variants cause severe muscle weakness and infantile epilepsy
Manuela D'Alessandro, Daniel Bamborschke, Margret H Bülow, et al.
European Journal of Ophthalmology
|
June 2, 2021
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review
Nurettin Bayram, Ayşe Kaçar Bayram, Hülya-Sevcan Daimagüler, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 24, 2023
Genotype-phenotype correlation and treatment effects in young patients with <i>GNAO1</i>-associated disorders
Moritz Thiel, Daniel Bamborschke, Wibke G Janzarik, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
December 16, 2015
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome
Anja K Büscher, Bodo B Beck, Anette Melk, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 13, 2021
The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature
Walid Fazeli, Daniel Bamborschke, Abubakar Moawia, et al.
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Search research articles
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Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
July 10, 2020
Mutation in CEP135 causing primary microcephaly and subcortical heterotopia
Daniel Bamborschke, Hülya-Sevcan Daimagüler, Andreas Hahn, et al.
Neuropediatrics
|
July 19, 2019
Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy
Daniel Bamborschke, Matthias Pergande, Hülya Sevcan Daimagüler, et al.
Brain & Development
|
March 5, 2018
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation
Daniel Bamborschke, Matthias Pergande, Kerstin Becker, et al.
American Journal of Medical Genetics. Part A
|
October 13, 2020
Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours
Daniel Bamborschke, Özkan Özdemir, Mona Kreutzer, et al.
Brain & Development
|
November 7, 2020
PNPT1 mutations may cause Aicardi-Goutières-Syndrome
Daniel Bamborschke, Mona Kreutzer, Anne Koy, et al.
Brain Communications
|
September 22, 2025
Biallelic <i>CRELD1</i> variants cause severe muscle weakness and infantile epilepsy
Manuela D'Alessandro, Daniel Bamborschke, Margret H Bülow, et al.
European Journal of Ophthalmology
|
June 2, 2021
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review
Nurettin Bayram, Ayşe Kaçar Bayram, Hülya-Sevcan Daimagüler, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 24, 2023
Genotype-phenotype correlation and treatment effects in young patients with <i>GNAO1</i>-associated disorders
Moritz Thiel, Daniel Bamborschke, Wibke G Janzarik, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
December 16, 2015
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome
Anja K Büscher, Bodo B Beck, Anette Melk, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 13, 2021
The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature
Walid Fazeli, Daniel Bamborschke, Abubakar Moawia, et al.
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of 2