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Journal of Child Neurology
|
August 11, 2007
Methylation status in females with rett syndrome
Michael Freilinger, David Kalisch, Adolf Muehl, et al.
Human Molecular Genetics
|
April 12, 2023
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome
Youngsook L Jung, Christina Hung, Jaejoon Choi, et al.
Neuromuscular Disorders : NMD
|
July 23, 2014
Screening for late-onset Pompe disease in Finland
Johanna Palmio, Mari Auranen, Sari Kiuru-Enari, et al.
American Journal of Medical Genetics. Part A
|
July 13, 2019
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome
Christina Y Hung, Mario Rodriguez, Abra Roberts, et al.
Pakistan Journal of Pharmaceutical Sciences
|
December 31, 2010
Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility
Furhan Iqbal, Chike Bellarmine Item, Rene Ratschmann, et al.
Genetic Testing
|
April 29, 2005
Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting
Georg Mitterer, Olaf Bodamer, Christian Harwanegg, et al.
American Journal of Medical Genetics. Part A
|
October 27, 2019
Prenatal and perinatal history in Kabuki Syndrome
Chen E Rosenberg, Tara Daly, Christina Hung, et al.
Orphanet Journal of Rare Diseases
|
April 26, 2017
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity
Nikolas Boy, Jana Heringer, Renate Brackmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 6, 2017
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
J Daniel Sharer, Olaf Bodamer, Nicola Longo, et al.
Movement Disorders Clinical Practice
|
June 23, 2018
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases
Darius Ebrahimi-Fakhari, Clara Hildebrandt, Peter E Davis, et al.
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of 8
Search research articles
Search
Showing results (11-20 of 74) with videos related to
Sort By:
Page
of 8
Journal of Child Neurology
|
August 11, 2007
Methylation status in females with rett syndrome
Michael Freilinger, David Kalisch, Adolf Muehl, et al.
Human Molecular Genetics
|
April 12, 2023
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome
Youngsook L Jung, Christina Hung, Jaejoon Choi, et al.
Neuromuscular Disorders : NMD
|
July 23, 2014
Screening for late-onset Pompe disease in Finland
Johanna Palmio, Mari Auranen, Sari Kiuru-Enari, et al.
American Journal of Medical Genetics. Part A
|
July 13, 2019
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome
Christina Y Hung, Mario Rodriguez, Abra Roberts, et al.
Pakistan Journal of Pharmaceutical Sciences
|
December 31, 2010
Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility
Furhan Iqbal, Chike Bellarmine Item, Rene Ratschmann, et al.
Genetic Testing
|
April 29, 2005
Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting
Georg Mitterer, Olaf Bodamer, Christian Harwanegg, et al.
American Journal of Medical Genetics. Part A
|
October 27, 2019
Prenatal and perinatal history in Kabuki Syndrome
Chen E Rosenberg, Tara Daly, Christina Hung, et al.
Orphanet Journal of Rare Diseases
|
April 26, 2017
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity
Nikolas Boy, Jana Heringer, Renate Brackmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 6, 2017
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
J Daniel Sharer, Olaf Bodamer, Nicola Longo, et al.
Movement Disorders Clinical Practice
|
June 23, 2018
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases
Darius Ebrahimi-Fakhari, Clara Hildebrandt, Peter E Davis, et al.
Page
of 8