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Trials
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February 1, 2015
Effects and cost-effectiveness of pharmacogenetic screening for CYP2D6 among older adults starting therapy with nortriptyline or venlafaxine: study protocol for a pragmatic randomized controlled trial (CYSCEtrial)
Elizabeth J J Berm, Eelko Hak, Maarten Postma, et al.
Journal of Medical Genetics
|
June 14, 2008
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
F D Hannes, A J Sharp, H C Mefford, et al.
Genomics
|
March 1, 1997
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3
H M Mitchison, P B Munroe, A M O'Rawe, et al.
European Journal of Medical Genetics
|
March 31, 2009
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances
Marianne Doornbos, Birgit Sikkema-Raddatz, Claudia A L Ruijvenkamp, et al.
Human Mutation
|
October 21, 2009
Deep sequencing to reveal new variants in pooled DNA samples
Astrid A Out, Ivonne J H M van Minderhout, Jelle J Goeman, et al.
European Journal of Medical Genetics
|
February 15, 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
Toshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, et al.
Journal of Medical Genetics
|
March 4, 2000
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
F Petrij, H G Dauwerse, R I Blough, et al.
Chest
|
May 13, 2026
Pretreatment with mono or dual PH-targeted medical therapy in patients undergoing balloon pulmonary angioplasty: effect on complications and clinical outcomes
D P Staal, R Y Lely, A Breuning, et al.
Human Mutation
|
February 19, 2013
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)
Yu Sun, Rowida Almomani, Guido J Breedveld, et al.
Oncotarget
|
October 17, 2015
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors
Attje S Hoekstra, Marieke A de Graaff, Inge H Briaire-de Bruijn, et al.
Page
of 40
Search research articles
Search
Showing results (351-360 of 391) with videos related to
Sort By:
Page
of 40
Trials
|
February 1, 2015
Effects and cost-effectiveness of pharmacogenetic screening for CYP2D6 among older adults starting therapy with nortriptyline or venlafaxine: study protocol for a pragmatic randomized controlled trial (CYSCEtrial)
Elizabeth J J Berm, Eelko Hak, Maarten Postma, et al.
Journal of Medical Genetics
|
June 14, 2008
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
F D Hannes, A J Sharp, H C Mefford, et al.
Genomics
|
March 1, 1997
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3
H M Mitchison, P B Munroe, A M O'Rawe, et al.
European Journal of Medical Genetics
|
March 31, 2009
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances
Marianne Doornbos, Birgit Sikkema-Raddatz, Claudia A L Ruijvenkamp, et al.
Human Mutation
|
October 21, 2009
Deep sequencing to reveal new variants in pooled DNA samples
Astrid A Out, Ivonne J H M van Minderhout, Jelle J Goeman, et al.
European Journal of Medical Genetics
|
February 15, 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
Toshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, et al.
Journal of Medical Genetics
|
March 4, 2000
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
F Petrij, H G Dauwerse, R I Blough, et al.
Chest
|
May 13, 2026
Pretreatment with mono or dual PH-targeted medical therapy in patients undergoing balloon pulmonary angioplasty: effect on complications and clinical outcomes
D P Staal, R Y Lely, A Breuning, et al.
Human Mutation
|
February 19, 2013
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)
Yu Sun, Rowida Almomani, Guido J Breedveld, et al.
Oncotarget
|
October 17, 2015
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors
Attje S Hoekstra, Marieke A de Graaff, Inge H Briaire-de Bruijn, et al.
Page
of 40