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Hane Lee

Showing results (111-120 of 134) with videos related to

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European Journal of Human Genetics : EJHG|May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesJianling Ji, Hane Lee, Bob Argiropoulos, et al.
American Journal of Human Genetics|July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA ProcessingAnna Fliedner, Philipp Kirchner, Antje Wiesener, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
American Journal of Human Genetics|June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyMuhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2019
Diagnostic utility of transcriptome sequencing for rare Mendelian diseasesHane Lee, Alden Y Huang, Lee-Kai Wang, et al.
The Journal of Clinical Endocrinology and Metabolism|May 8, 2024
Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate GenesJulian Martinez-Mayer, Sebastian Vishnopolska, Catalina Perticarari, et al.
The New England Journal of Medicine|January 13, 2012
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletionsMichael J Ombrello, Elaine F Remmers, Guangping Sun, et al.
The Journal of Experimental Medicine|February 3, 2017
<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delayStefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, et al.
Orphanet Journal of Rare Diseases|March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrumUlrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Pageof 14

Showing results (111-120 of 134) with videos related to

Sort By:
Pageof 14
European Journal of Human Genetics : EJHG|May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesJianling Ji, Hane Lee, Bob Argiropoulos, et al.
American Journal of Human Genetics|July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA ProcessingAnna Fliedner, Philipp Kirchner, Antje Wiesener, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
American Journal of Human Genetics|June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyMuhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2019
Diagnostic utility of transcriptome sequencing for rare Mendelian diseasesHane Lee, Alden Y Huang, Lee-Kai Wang, et al.
The Journal of Clinical Endocrinology and Metabolism|May 8, 2024
Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate GenesJulian Martinez-Mayer, Sebastian Vishnopolska, Catalina Perticarari, et al.
The New England Journal of Medicine|January 13, 2012
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletionsMichael J Ombrello, Elaine F Remmers, Guangping Sun, et al.
The Journal of Experimental Medicine|February 3, 2017
<i>EXTL3</i> mutations cause skeletal dysplasia, immune deficiency, and developmental delayStefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, et al.
Orphanet Journal of Rare Diseases|March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrumUlrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Pageof 14