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Rachel Slaugh

Showing results (1-10 of 13) with videos related to

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RN|August 30, 2008
Lysosomal storage diseasesLinda P Manwaring, Patricia A Jamerson, Rachel Slaugh
American Journal of Medical Genetics. Part A|June 10, 2003
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibsRick A Martin, Rachel Slaugh, Marvin Natowicz, et al.
European Journal of Human Genetics : EJHG|July 7, 2024
Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndromeRodrigo Tzovenos Starosta, Nathaniel Jensen, Sophia Couteranis, et al.
HGG Advances|September 16, 2021
<i>PTPN4</i> germline variants result in aberrant neurodevelopment and growthJoanna J Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsySakshi Singh, Aditi Gupta, Michael Zech, et al.
American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
American Journal of Human Genetics|May 15, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
American Journal of Human Genetics|January 20, 2007
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey, F Lucy Raymond, Sarah O'Meara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
RN|August 30, 2008
Lysosomal storage diseasesLinda P Manwaring, Patricia A Jamerson, Rachel Slaugh
American Journal of Medical Genetics. Part A|June 10, 2003
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibsRick A Martin, Rachel Slaugh, Marvin Natowicz, et al.
European Journal of Human Genetics : EJHG|July 7, 2024
Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndromeRodrigo Tzovenos Starosta, Nathaniel Jensen, Sophia Couteranis, et al.
HGG Advances|September 16, 2021
<i>PTPN4</i> germline variants result in aberrant neurodevelopment and growthJoanna J Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsySakshi Singh, Aditi Gupta, Michael Zech, et al.
American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
American Journal of Human Genetics|May 15, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
American Journal of Human Genetics|January 20, 2007
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey, F Lucy Raymond, Sarah O'Meara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Pageof 2