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Hane Lee

Showing results (91-100 of 134) with videos related to

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Clinical Genetics|February 25, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven CountriesEdoardo Malfatti, Alexandru Caramizaru, Hane Lee, et al.
The Journal of Clinical Endocrinology and Metabolism|November 11, 2014
Exome sequencing for the diagnosis of 46,XY disorders of sex developmentRuth M Baxter, Valerie A Arboleda, Hane Lee, et al.
International Journal of Molecular Sciences|December 11, 2022
Congenital Stationary Night Blindness: Clinical and Genetic FeaturesAngela H Kim, Pei-Kang Liu, Yin-Hsi Chang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
Human Molecular Genetics|June 2, 2022
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorderFranziska Paul, Calista Ng, Umar Bin Mohamad Sahari, et al.
International Journal of Molecular Sciences|August 28, 2025
Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal HyperinsulinemiaMiguel Angel Alcántara-Ortigoza, Marcela Vela-Amieva, Ariadna González-Del Angel, et al.
Cilia|April 13, 2016
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndromeMachteld M Oud, Carine Bonnard, Dorus A Mans, et al.
Nature Genetics|March 2, 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1David R Goudie, Mariella D'Alessandro, Barry Merriman, et al.
JAMA|October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disordersHane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.
Pageof 14

Showing results (91-100 of 134) with videos related to

Sort By:
Pageof 14
Clinical Genetics|February 25, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven CountriesEdoardo Malfatti, Alexandru Caramizaru, Hane Lee, et al.
The Journal of Clinical Endocrinology and Metabolism|November 11, 2014
Exome sequencing for the diagnosis of 46,XY disorders of sex developmentRuth M Baxter, Valerie A Arboleda, Hane Lee, et al.
International Journal of Molecular Sciences|December 11, 2022
Congenital Stationary Night Blindness: Clinical and Genetic FeaturesAngela H Kim, Pei-Kang Liu, Yin-Hsi Chang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
Human Molecular Genetics|June 2, 2022
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorderFranziska Paul, Calista Ng, Umar Bin Mohamad Sahari, et al.
International Journal of Molecular Sciences|August 28, 2025
Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal HyperinsulinemiaMiguel Angel Alcántara-Ortigoza, Marcela Vela-Amieva, Ariadna González-Del Angel, et al.
Cilia|April 13, 2016
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndromeMachteld M Oud, Carine Bonnard, Dorus A Mans, et al.
Nature Genetics|March 2, 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1David R Goudie, Mariella D'Alessandro, Barry Merriman, et al.
JAMA|October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disordersHane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.
Pageof 14