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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 17, 2018
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
Illja J Diets, Trine Prescott, Neena L Champaigne, et al.
Neurogenetics
|
September 20, 2005
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease
R Biancheri, A Rossi, H A Verbeek, et al.
ACS Omega
|
July 20, 2018
<i>O</i>-Aryl-Glycoside Ice Recrystallization Inhibitors as Novel Cryoprotectants: A Structure-Function Study
Chantelle J Capicciotti, Ross S Mancini, Tracey R Turner, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|
August 24, 2010
Combined cardiological and neurological abnormalities due to filamin A gene mutation
Marie Claire Y de Wit, Irenaeus F M de Coo, Maarten H Lequin, et al.
Veterinary Parasitology
|
February 11, 2000
Rate of infection and of reinfection by Echinococcus granulosus in rural dogs of the province of Rio Negro, Argentina
E Larrieu, M T Costa, G Cantoni, et al.
Journal of Medical Genetics
|
April 5, 2003
Studies on the pathogenesis of Costello syndrome
G M S Mancini, O P van Diggelen, W J Kleijer, et al.
Molecular Genetics & Genomic Medicine
|
June 2, 2015
Contiguous mutation syndrome in the era of high-throughput sequencing
Maéva Langouët, Karine Siquier-Pernet, Sylvia Sanquer, et al.
Minerva Anestesiologica
|
June 1, 2000
[Locoregional anesthesia in inguinal hernia surgery]
F Tani, A Coratti, A De Martino, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
March 18, 2009
Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects
M C Y de Wit, J M Kros, D J J Halley, et al.
Veterinary Parasitology
|
June 26, 2001
Ovine Echinococcus granulosus transmission dynamics in the province of Rio Negro, Argentina, 1980-1999
E Larrieu, M T Costa, G Cantoni, et al.
Page
of 35
Search research articles
Search
Showing results (191-200 of 347) with videos related to
Sort By:
Page
of 35
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 17, 2018
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
Illja J Diets, Trine Prescott, Neena L Champaigne, et al.
Neurogenetics
|
September 20, 2005
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease
R Biancheri, A Rossi, H A Verbeek, et al.
ACS Omega
|
July 20, 2018
<i>O</i>-Aryl-Glycoside Ice Recrystallization Inhibitors as Novel Cryoprotectants: A Structure-Function Study
Chantelle J Capicciotti, Ross S Mancini, Tracey R Turner, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|
August 24, 2010
Combined cardiological and neurological abnormalities due to filamin A gene mutation
Marie Claire Y de Wit, Irenaeus F M de Coo, Maarten H Lequin, et al.
Veterinary Parasitology
|
February 11, 2000
Rate of infection and of reinfection by Echinococcus granulosus in rural dogs of the province of Rio Negro, Argentina
E Larrieu, M T Costa, G Cantoni, et al.
Journal of Medical Genetics
|
April 5, 2003
Studies on the pathogenesis of Costello syndrome
G M S Mancini, O P van Diggelen, W J Kleijer, et al.
Molecular Genetics & Genomic Medicine
|
June 2, 2015
Contiguous mutation syndrome in the era of high-throughput sequencing
Maéva Langouët, Karine Siquier-Pernet, Sylvia Sanquer, et al.
Minerva Anestesiologica
|
June 1, 2000
[Locoregional anesthesia in inguinal hernia surgery]
F Tani, A Coratti, A De Martino, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
March 18, 2009
Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects
M C Y de Wit, J M Kros, D J J Halley, et al.
Veterinary Parasitology
|
June 26, 2001
Ovine Echinococcus granulosus transmission dynamics in the province of Rio Negro, Argentina, 1980-1999
E Larrieu, M T Costa, G Cantoni, et al.
Page
of 35