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Sarah M Nikkel

Showing results (21-30 of 36) with videos related to

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American Journal of Medical Genetics. Part A|May 11, 2017
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohortFaheem Malam, Taila Hartley, Meredith K Gillespie, et al.
Nature Communications|November 4, 2023
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasiaOphélie Gourgas, Gabrielle Lemire, Alison J Eaton, et al.
Human Mutation|October 4, 2012
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosisDanielle C Lynch, David A Dyment, Lijia Huang, et al.
Channels (Austin, Tex.)|October 30, 2025
<i>SCN3A</i>-related neurodevelopmental disorder: Clinical case reports and biophysical characterizationMohammad-Reza Ghovanloo, Cynthia Gershome, Robin van der Lee, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndromeAlain Verloes, Pierre Bitoun, Anne Heuskin, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unitHussein Daoud, Stephanie M Luco, Rui Li, et al.
American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.
European Journal of Pediatrics|June 8, 2019
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challengesAlison M Elliott, Christèle du Souich, Anna Lehman, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|May 11, 2017
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohortFaheem Malam, Taila Hartley, Meredith K Gillespie, et al.
Nature Communications|November 4, 2023
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasiaOphélie Gourgas, Gabrielle Lemire, Alison J Eaton, et al.
Human Mutation|October 4, 2012
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosisDanielle C Lynch, David A Dyment, Lijia Huang, et al.
Channels (Austin, Tex.)|October 30, 2025
<i>SCN3A</i>-related neurodevelopmental disorder: Clinical case reports and biophysical characterizationMohammad-Reza Ghovanloo, Cynthia Gershome, Robin van der Lee, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndromeAlain Verloes, Pierre Bitoun, Anne Heuskin, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unitHussein Daoud, Stephanie M Luco, Rui Li, et al.
American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.
European Journal of Pediatrics|June 8, 2019
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challengesAlison M Elliott, Christèle du Souich, Anna Lehman, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong, Azza Abd El Moneim, Kirk Aleck, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Pageof 4