Mariëtte J V Hoffer - JoVE Visualize

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Fertility and Sterility|June 13, 2003

Partial DAZ deletions in a family with five infertile brothersJudith Gianotten, Mariëtte J V Hoffer, Jan W A De Vries, et al.

American Journal of Medical Genetics. Part A|May 2, 2023

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestaltElise Pelgrims, Sally Ann Lynch, Laurens Hannes, et al.

Prenatal Diagnosis|October 10, 2024

Confined Placental Mosaicism Detected With Non-Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?Geerke M Eggenhuizen, Attie T J I Go, Mariëtte J V Hoffer, et al.

Fertility and Sterility|January 10, 2002

Reduced copy number of DAZ genes in subfertile and infertile menJan W A de Vries, Mariëtte J V Hoffer, Sjoerd Repping, et al.

European Journal of Medical Genetics|June 13, 2008

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardationAntoinet C J Gijsbers, Emilia K Bijlsma, Marjan M Weiss, et al.

Neurobiology of Disease|October 9, 2018

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson SyndromeAlina Ilie, Andy Y L Gao, Annie Boucher, et al.

Human Mutation|March 17, 2015

Next-generation diagnostics: gene panel, exome, or whole genome?Yu Sun, Claudia A L Ruivenkamp, Mariëtte J V Hoffer, et al.

European Journal of Human Genetics : EJHG|August 21, 2025

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?Maayke A de Koning, Malgorzata I Srebniak, Esther J Oldekamp, et al.

American Journal of Medical Genetics. Part A|August 30, 2016

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies, Saadullah Khan, Imran Ullah, et al.

Haematologica|September 18, 2012

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia majorCornelis L Harteveld, Chiara Refaldi, Antonino Giambona, et al.

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Showing results (1-10 of 38) with videos related to

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Fertility and Sterility|June 13, 2003

Partial DAZ deletions in a family with five infertile brothersJudith Gianotten, Mariëtte J V Hoffer, Jan W A De Vries, et al.

American Journal of Medical Genetics. Part A|May 2, 2023

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestaltElise Pelgrims, Sally Ann Lynch, Laurens Hannes, et al.

Prenatal Diagnosis|October 10, 2024

Confined Placental Mosaicism Detected With Non-Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?Geerke M Eggenhuizen, Attie T J I Go, Mariëtte J V Hoffer, et al.

Fertility and Sterility|January 10, 2002

Reduced copy number of DAZ genes in subfertile and infertile menJan W A de Vries, Mariëtte J V Hoffer, Sjoerd Repping, et al.

European Journal of Medical Genetics|June 13, 2008

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardationAntoinet C J Gijsbers, Emilia K Bijlsma, Marjan M Weiss, et al.

Neurobiology of Disease|October 9, 2018

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson SyndromeAlina Ilie, Andy Y L Gao, Annie Boucher, et al.

Human Mutation|March 17, 2015

Next-generation diagnostics: gene panel, exome, or whole genome?Yu Sun, Claudia A L Ruivenkamp, Mariëtte J V Hoffer, et al.

European Journal of Human Genetics : EJHG|August 21, 2025

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?Maayke A de Koning, Malgorzata I Srebniak, Esther J Oldekamp, et al.

American Journal of Medical Genetics. Part A|August 30, 2016

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies, Saadullah Khan, Imran Ullah, et al.

Haematologica|September 18, 2012

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia majorCornelis L Harteveld, Chiara Refaldi, Antonino Giambona, et al.

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