Helena Böhrer-Rabel - JoVE Visualize

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European Journal of Human Genetics : EJHG|August 14, 2014

Tectonic gene mutations in patients with Joubert syndromePeter Huppke, Eike Wegener, Helena Böhrer-Rabel, et al.

American Journal of Medical Genetics. Part A|October 19, 2016

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicismShahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.

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Showing results (1-10 of 3) with videos related to

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European Journal of Human Genetics : EJHG|August 14, 2014

Tectonic gene mutations in patients with Joubert syndromePeter Huppke, Eike Wegener, Helena Böhrer-Rabel, et al.

American Journal of Medical Genetics. Part A|October 19, 2016

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicismShahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.

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