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Sarah M Nikkel

Showing results (11-20 of 41) with videos related to

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Journal of Human Genetics|February 24, 2017
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1Priya T Bhola, Taila Hartley, Eric Bareke, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C geneAmanda Smith, Dennis E Bulman, Claire Goldsmith, et al.
Human Mutation|August 5, 2010
Mutations in GDF5 presenting as semidominant brachydactyly A1Ashley M Byrnes, Lemuel Racacho, Sarah M Nikkel, et al.
European Journal of Medical Genetics|October 26, 2017
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literatureDanielle K Bourque, Taila Hartley, Sarah M Nikkel, et al.
Behavioural Brain Research|November 5, 2013
Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposureAngelina Paolozza, Carmen Rasmussen, Jacqueline Pei, et al.
Behavioural Brain Research|February 4, 2014
Working memory and visuospatial deficits correlate with oculomotor control in children with fetal alcohol spectrum disorderAngelina Paolozza, Carmen Rasmussen, Jacqueline Pei, et al.
Scientific Reports|December 10, 2016
The defining DNA methylation signature of Floating-Harbor SyndromeRebecca L Hood, Laila C Schenkel, Sarah M Nikkel, et al.
Plos One|March 2, 2016
Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol ExposureSarah Treit, Dongming Zhou, Albert E Chudley, et al.
European Journal of Human Genetics : EJHG|March 12, 2015
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1Lemuel Racacho, Ashley M Byrnes, Heather MacDonald, et al.
Prenatal Diagnosis|September 7, 2022
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelinesMelissa Cornthwaite, Kelly Turner, Linlea Armstrong, et al.
Pageof 5

Showing results (11-20 of 41) with videos related to

Sort By:
Pageof 5
Journal of Human Genetics|February 24, 2017
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1Priya T Bhola, Taila Hartley, Eric Bareke, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C geneAmanda Smith, Dennis E Bulman, Claire Goldsmith, et al.
Human Mutation|August 5, 2010
Mutations in GDF5 presenting as semidominant brachydactyly A1Ashley M Byrnes, Lemuel Racacho, Sarah M Nikkel, et al.
European Journal of Medical Genetics|October 26, 2017
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literatureDanielle K Bourque, Taila Hartley, Sarah M Nikkel, et al.
Behavioural Brain Research|November 5, 2013
Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposureAngelina Paolozza, Carmen Rasmussen, Jacqueline Pei, et al.
Behavioural Brain Research|February 4, 2014
Working memory and visuospatial deficits correlate with oculomotor control in children with fetal alcohol spectrum disorderAngelina Paolozza, Carmen Rasmussen, Jacqueline Pei, et al.
Scientific Reports|December 10, 2016
The defining DNA methylation signature of Floating-Harbor SyndromeRebecca L Hood, Laila C Schenkel, Sarah M Nikkel, et al.
Plos One|March 2, 2016
Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol ExposureSarah Treit, Dongming Zhou, Albert E Chudley, et al.
European Journal of Human Genetics : EJHG|March 12, 2015
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1Lemuel Racacho, Ashley M Byrnes, Heather MacDonald, et al.
Prenatal Diagnosis|September 7, 2022
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelinesMelissa Cornthwaite, Kelly Turner, Linlea Armstrong, et al.
Pageof 5