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Christian Beetz

Showing results (51-60 of 160) with videos related to

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Clinical Genetics|December 23, 2020
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathyLia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi, et al.
Journal of Human Genetics|November 27, 2019
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patientsAdila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, et al.
International Journal of Molecular Sciences|July 2, 2020
Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood SpotsClaudia Cozma, Paskal Cullufi, Guido Kramp, et al.
Orphanet Journal of Rare Diseases|November 18, 2015
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, et al.
American Journal of Medical Genetics. Part A|September 10, 2020
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variantSara H El-Dessouky, Mahmoud Y Issa, Mona M Aboulghar, et al.
Neurogenetics|October 16, 2008
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegiaRebecca Schüle, Elisabeth Brandt, Kathrin N Karle, et al.
JIMD Reports|January 21, 2021
Genetic characterization of the Albanian Gaucher disease patient populationPaskal Cullufi, Mirela Tabaku, Virtut Velmishi, et al.
European Journal of Human Genetics : EJHG|December 12, 2019
Novel clinical and genetic insight into CXorf56-associated intellectual disabilityMaria Eugenia Rocha, Tainá Regina Damaceno Silveira, Erina Sasaki, et al.
Clinical Genetics|February 22, 2019
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasiaZafer Yüksel, Florian Vogel, Amal M Alhashem, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 4, 2007
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplificationAna Djarmati, Miodrag Guzvić, Anne Grünewald, et al.
Pageof 16

Showing results (51-60 of 160) with videos related to

Sort By:
Pageof 16
Clinical Genetics|December 23, 2020
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathyLia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi, et al.
Journal of Human Genetics|November 27, 2019
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patientsAdila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, et al.
International Journal of Molecular Sciences|July 2, 2020
Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood SpotsClaudia Cozma, Paskal Cullufi, Guido Kramp, et al.
Orphanet Journal of Rare Diseases|November 18, 2015
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, et al.
American Journal of Medical Genetics. Part A|September 10, 2020
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variantSara H El-Dessouky, Mahmoud Y Issa, Mona M Aboulghar, et al.
Neurogenetics|October 16, 2008
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegiaRebecca Schüle, Elisabeth Brandt, Kathrin N Karle, et al.
JIMD Reports|January 21, 2021
Genetic characterization of the Albanian Gaucher disease patient populationPaskal Cullufi, Mirela Tabaku, Virtut Velmishi, et al.
European Journal of Human Genetics : EJHG|December 12, 2019
Novel clinical and genetic insight into CXorf56-associated intellectual disabilityMaria Eugenia Rocha, Tainá Regina Damaceno Silveira, Erina Sasaki, et al.
Clinical Genetics|February 22, 2019
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasiaZafer Yüksel, Florian Vogel, Amal M Alhashem, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 4, 2007
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplificationAna Djarmati, Miodrag Guzvić, Anne Grünewald, et al.
Pageof 16