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Peter Miny

Showing results (31-40 of 41) with videos related to

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Plos One|December 24, 2010
Microarray-based maps of copy-number variant regions in European and sub-Saharan populationsChristian Vogler, Leo Gschwind, Benno Röthlisberger, et al.
Human Mutation|January 29, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
Human Mutation|June 15, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
Prenatal Diagnosis|July 19, 2002
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionalsTheresa M Marteau, Irma Nippert, Sue Hall, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
The mutation spectrum in RECQL4 diseasesH Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
Human Genetics|March 20, 2009
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)André B P van Kuilenburg, Judith Meijer, Adri N P M Mul, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
Research Square|October 16, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionDavid Picketts, Ghayda Mirzaa, Keqin Yan, et al.
Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Plos One|December 24, 2010
Microarray-based maps of copy-number variant regions in European and sub-Saharan populationsChristian Vogler, Leo Gschwind, Benno Röthlisberger, et al.
Human Mutation|January 29, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
Human Mutation|June 15, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
Prenatal Diagnosis|July 19, 2002
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionalsTheresa M Marteau, Irma Nippert, Sue Hall, et al.
European Journal of Human Genetics : EJHG|August 22, 2008
The mutation spectrum in RECQL4 diseasesH Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
Human Genetics|March 20, 2009
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)André B P van Kuilenburg, Judith Meijer, Adri N P M Mul, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
Research Square|October 16, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionDavid Picketts, Ghayda Mirzaa, Keqin Yan, et al.
Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
Pageof 5