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American Journal of Human Genetics
|
April 9, 2011
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis
Pleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, et al.
Plos One
|
July 19, 2014
The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease
Richie Khanna, Allan C Powe, Yi Lun, et al.
European Journal of Human Genetics : EJHG
|
January 12, 2012
ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible
Martin B Delatycki, Michelle Wolthuizen, Veronica Collins, et al.
Discover Electronics
|
February 4, 2026
Integration and electrical evaluation of WS<sub>2</sub> and MoS<sub>2</sub> fets in a 300 mm pilot line
T Schram, Q Smets, A Opdebeeck, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2021
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations
Chloe A Stutterd, Alexa Kidd, Chris Florkowski, et al.
Plos One
|
March 9, 2013
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients
Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, et al.
Genome Biology and Evolution
|
December 11, 2012
Genomes of Stigonematalean cyanobacteria (subsection V) and the evolution of oxygenic photosynthesis from prokaryotes to plastids
Tal Dagan, Mayo Roettger, Karina Stucken, et al.
Neurology. Genetics
|
April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Ashley P L Marsh, Vesna Lukic, Kate Pope, et al.
Clinical Oncology (Royal College of Radiologists (Great Britain))
|
March 30, 2023
Delivery Models and Health Economics of Supportive Care Services in England: A Multicentre Analysis
D Monnery, K Tredgett, D Hooper, et al.
Bioorganic & Medicinal Chemistry Letters
|
August 4, 2009
Arylcarboxyamino-substituted diaryl ureas as potent and selective FLT3 inhibitors
Hitesh K Patel, Robert M Grotzfeld, Andiliy G Lai, et al.
Page
of 46
Search research articles
Search
Showing results (361-370 of 454) with videos related to
Sort By:
Page
of 46
American Journal of Human Genetics
|
April 9, 2011
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis
Pleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, et al.
Plos One
|
July 19, 2014
The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease
Richie Khanna, Allan C Powe, Yi Lun, et al.
European Journal of Human Genetics : EJHG
|
January 12, 2012
ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible
Martin B Delatycki, Michelle Wolthuizen, Veronica Collins, et al.
Discover Electronics
|
February 4, 2026
Integration and electrical evaluation of WS<sub>2</sub> and MoS<sub>2</sub> fets in a 300 mm pilot line
T Schram, Q Smets, A Opdebeeck, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2021
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations
Chloe A Stutterd, Alexa Kidd, Chris Florkowski, et al.
Plos One
|
March 9, 2013
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients
Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, et al.
Genome Biology and Evolution
|
December 11, 2012
Genomes of Stigonematalean cyanobacteria (subsection V) and the evolution of oxygenic photosynthesis from prokaryotes to plastids
Tal Dagan, Mayo Roettger, Karina Stucken, et al.
Neurology. Genetics
|
April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Ashley P L Marsh, Vesna Lukic, Kate Pope, et al.
Clinical Oncology (Royal College of Radiologists (Great Britain))
|
March 30, 2023
Delivery Models and Health Economics of Supportive Care Services in England: A Multicentre Analysis
D Monnery, K Tredgett, D Hooper, et al.
Bioorganic & Medicinal Chemistry Letters
|
August 4, 2009
Arylcarboxyamino-substituted diaryl ureas as potent and selective FLT3 inhibitors
Hitesh K Patel, Robert M Grotzfeld, Andiliy G Lai, et al.
Page
of 46