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Brain : a Journal of Neurology
|
May 1, 2010
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
Michèl A Willemsen, Marcel M Verbeek, Erik-Jan Kamsteeg, et al.
Nature Communications
|
November 23, 2023
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
Franz Huschner, Jagoda Głowacka-Walas, James D Mills, et al.
Nature Genetics
|
July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Yanick J Crow, Andrea Leitch, Bruce E Hayward, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 27, 2024
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
Clara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, et al.
Brain : a Journal of Neurology
|
February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
American Journal of Human Genetics
|
September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, et al.
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of 19
Search research articles
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Showing results (181-190 of 186) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 186 results.
Brain : a Journal of Neurology
|
May 1, 2010
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
Michèl A Willemsen, Marcel M Verbeek, Erik-Jan Kamsteeg, et al.
Nature Communications
|
November 23, 2023
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
Franz Huschner, Jagoda Głowacka-Walas, James D Mills, et al.
Nature Genetics
|
July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Yanick J Crow, Andrea Leitch, Bruce E Hayward, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 27, 2024
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
Clara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, et al.
Brain : a Journal of Neurology
|
February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
American Journal of Human Genetics
|
September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, et al.
Page
of 19