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Carol Saunders

Showing results (21-30 of 60) with videos related to

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American Journal of Medical Genetics. Part A|February 23, 2023
Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichiaShivarajan M Amudhavalli, V Paolillo, Caitlin Lawson, et al.
American Journal of Medical Genetics. Part A|December 24, 2017
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathiesAtif A Ahmed, Priya Skaria, Nicole P Safina, et al.
Endocrinology|February 4, 2020
High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise ApproachJill D Jacobson, Laurel K Willig, John Gatti, et al.
American Journal of Medical Genetics. Part A|March 27, 2016
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variantIsabelle Thiffault, Emily Farrow, Laurie Smith, et al.
Frontiers in Immunology|January 10, 2018
Two Brothers with Atypical <i>UNC13D-</i>Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain InvolvementGiuliana Giardino, Maia De Luca, Emilia Cirillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2018
Clinical genome sequencing in an unbiased pediatric cohortIsabelle Thiffault, Emily Farrow, Lee Zellmer, et al.
Cold Spring Harbor Molecular Case Studies|May 3, 2020
Pathogenic variants in <i>KPTN</i> gene identified by clinical whole-genome sequencingIsabelle Thiffault, Andrea Atherton, Bryce A Heese, et al.
Clinical Chemistry|February 11, 2016
Classifying Germline Sequence Variants in the Era of Next-Generation SequencingLinnea M Baudhuin, Birgit H Funke, Lora H Bean, et al.
BMC Medical Genetics|November 4, 2017
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related diseaseIsabelle Thiffault, Britton Zuccarelli, Holly Welsh, et al.
Human Genetics|February 24, 2026
Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomaliesAdeline Jacquinet, Lydie Flasse, Manon Dohet, et al.
Pageof 6

Showing results (21-30 of 60) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|February 23, 2023
Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichiaShivarajan M Amudhavalli, V Paolillo, Caitlin Lawson, et al.
American Journal of Medical Genetics. Part A|December 24, 2017
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathiesAtif A Ahmed, Priya Skaria, Nicole P Safina, et al.
Endocrinology|February 4, 2020
High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise ApproachJill D Jacobson, Laurel K Willig, John Gatti, et al.
American Journal of Medical Genetics. Part A|March 27, 2016
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variantIsabelle Thiffault, Emily Farrow, Laurie Smith, et al.
Frontiers in Immunology|January 10, 2018
Two Brothers with Atypical <i>UNC13D-</i>Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain InvolvementGiuliana Giardino, Maia De Luca, Emilia Cirillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2018
Clinical genome sequencing in an unbiased pediatric cohortIsabelle Thiffault, Emily Farrow, Lee Zellmer, et al.
Cold Spring Harbor Molecular Case Studies|May 3, 2020
Pathogenic variants in <i>KPTN</i> gene identified by clinical whole-genome sequencingIsabelle Thiffault, Andrea Atherton, Bryce A Heese, et al.
Clinical Chemistry|February 11, 2016
Classifying Germline Sequence Variants in the Era of Next-Generation SequencingLinnea M Baudhuin, Birgit H Funke, Lora H Bean, et al.
BMC Medical Genetics|November 4, 2017
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related diseaseIsabelle Thiffault, Britton Zuccarelli, Holly Welsh, et al.
Human Genetics|February 24, 2026
Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomaliesAdeline Jacquinet, Lydie Flasse, Manon Dohet, et al.
Pageof 6