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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 3, 2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
Lauren Lawrence, Murat Sincan, Thomas Markello, et al.
Bioorganic & Medicinal Chemistry
|
December 31, 2017
Design and synthesis of a potent, highly selective, orally bioavailable, retinoic acid receptor alpha agonist
Earl Clarke, Christopher I Jarvis, Maria B Goncalves, et al.
Journal of Inherited Metabolic Disease
|
May 1, 2022
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program
Carolina Montano, Thomas Cassini, Shira G Ziegler, et al.
Neurology
|
March 6, 2016
Neurologic involvement in patients with atypical Chediak-Higashi disease
Wendy J Introne, Wendy Westbroek, Andrew R Cullinane, et al.
Orphanet Journal of Rare Diseases
|
April 19, 2015
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
Jessica S Albert, Nisan Bhattacharyya, Lynne A Wolfe, et al.
Annals of Neurology
|
June 27, 2009
Free sialic acid storage disease without sialuria
Fanny Mochel, Bingzhi Yang, Julie Barritault, et al.
Journal of Medical Genetics
|
October 3, 2023
Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, et al.
Neurology
|
February 15, 2017
Neurologic involvement in patients with atypical Chediak-Higashi disease
Wendy J Introne, Wendy Westbroek, Catherine A Groden, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder
Zoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.
Journal of Medicinal Chemistry
|
April 5, 2011
Elucidation of a structural basis for the inhibitor-driven, p62 (SQSTM1)-dependent intracellular redistribution of cAMP phosphodiesterase-4A4 (PDE4A4)
Jonathan P Day, Barbara Lindsay, Tracy Riddell, et al.
Page
of 21
Search research articles
Search
Showing results (151-160 of 207) with videos related to
Sort By:
Page
of 21
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 3, 2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
Lauren Lawrence, Murat Sincan, Thomas Markello, et al.
Bioorganic & Medicinal Chemistry
|
December 31, 2017
Design and synthesis of a potent, highly selective, orally bioavailable, retinoic acid receptor alpha agonist
Earl Clarke, Christopher I Jarvis, Maria B Goncalves, et al.
Journal of Inherited Metabolic Disease
|
May 1, 2022
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program
Carolina Montano, Thomas Cassini, Shira G Ziegler, et al.
Neurology
|
March 6, 2016
Neurologic involvement in patients with atypical Chediak-Higashi disease
Wendy J Introne, Wendy Westbroek, Andrew R Cullinane, et al.
Orphanet Journal of Rare Diseases
|
April 19, 2015
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
Jessica S Albert, Nisan Bhattacharyya, Lynne A Wolfe, et al.
Annals of Neurology
|
June 27, 2009
Free sialic acid storage disease without sialuria
Fanny Mochel, Bingzhi Yang, Julie Barritault, et al.
Journal of Medical Genetics
|
October 3, 2023
Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, et al.
Neurology
|
February 15, 2017
Neurologic involvement in patients with atypical Chediak-Higashi disease
Wendy J Introne, Wendy Westbroek, Catherine A Groden, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder
Zoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.
Journal of Medicinal Chemistry
|
April 5, 2011
Elucidation of a structural basis for the inhibitor-driven, p62 (SQSTM1)-dependent intracellular redistribution of cAMP phosphodiesterase-4A4 (PDE4A4)
Jonathan P Day, Barbara Lindsay, Tracy Riddell, et al.
Page
of 21