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Showing results (81-90 of 101) with videos related to

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American Journal of Human Genetics|November 20, 2020
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl<sup>-</sup>/H<sup>+</sup>-Exchanger, Causes Early-Onset NeurodegenerationMaya M Polovitskaya, Carlo Barbini, Diego Martinelli, et al.
Chest|February 23, 2013
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1Aaron Hamvas, Robin R Deterding, Susan E Wert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2024
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalitiesMatthew J Moulton, Kristhen Atala, Yiming Zheng, et al.
American Journal of Respiratory Cell and Molecular Biology|December 29, 2023
Homozygous, Intragenic Tandem Duplication of <i>SFTPB</i> Causes Neonatal Respiratory FailureJennifer A Wambach, Daniel J Wegner, Joseph Kitzmiller, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
Proceedings of the American Thoracic Society|January 10, 2009
Strategic plan for pediatric respiratory diseases research: an NHLBI working group reportMario Castro, Maria I Ramirez, James E Gern, et al.
Ebiomedicine|March 1, 2025
Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related diseaseCamille Louvrier, Tifenn Desroziers, Yohan Soreze, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2026
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene AssociationLaura A Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, et al.
Cell Stem Cell|October 3, 2017
Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial CellsAnjali Jacob, Michael Morley, Finn Hawkins, et al.
Cell Reports|September 1, 2021
Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung diseaseKonstantinos-Dionysios Alysandratos, Scott J Russo, Anton Petcherski, et al.
Pageof 11

Showing results (81-90 of 101) with videos related to

Sort By:
Pageof 11
American Journal of Human Genetics|November 20, 2020
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl<sup>-</sup>/H<sup>+</sup>-Exchanger, Causes Early-Onset NeurodegenerationMaya M Polovitskaya, Carlo Barbini, Diego Martinelli, et al.
Chest|February 23, 2013
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1Aaron Hamvas, Robin R Deterding, Susan E Wert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2024
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalitiesMatthew J Moulton, Kristhen Atala, Yiming Zheng, et al.
American Journal of Respiratory Cell and Molecular Biology|December 29, 2023
Homozygous, Intragenic Tandem Duplication of <i>SFTPB</i> Causes Neonatal Respiratory FailureJennifer A Wambach, Daniel J Wegner, Joseph Kitzmiller, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
Proceedings of the American Thoracic Society|January 10, 2009
Strategic plan for pediatric respiratory diseases research: an NHLBI working group reportMario Castro, Maria I Ramirez, James E Gern, et al.
Ebiomedicine|March 1, 2025
Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related diseaseCamille Louvrier, Tifenn Desroziers, Yohan Soreze, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2026
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene AssociationLaura A Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, et al.
Cell Stem Cell|October 3, 2017
Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial CellsAnjali Jacob, Michael Morley, Finn Hawkins, et al.
Cell Reports|September 1, 2021
Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung diseaseKonstantinos-Dionysios Alysandratos, Scott J Russo, Anton Petcherski, et al.
Pageof 11