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Human Reproduction (Oxford, England)
|
November 6, 1998
Does intracytoplasmic sperm injection lead to a rise in the frequency of microdeletions in the AZFc region of the Y chromosome in future generations?
J A Kremer, J H Tuerlings, G Borm, et al.
Journal of Cellular Physiology
|
July 8, 1999
Cellular glycosylphosphatidylinositol-specific phospholipase D regulates urokinase receptor shedding and cell surface expression
O G Wilhelm, S Wilhelm, G M Escott, et al.
American Journal of Human Genetics
|
December 23, 2022
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders
Laurens Wiel, Juliet E Hampstead, Hanka Venselaar, et al.
Molecular Syndromology
|
July 24, 2012
A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome
A T Vulto-van Silfhout, A F M de Brouwer, N de Leeuw, et al.
Neuromuscular Disorders : NMD
|
December 4, 2001
A new phenotype of autosomal dominant nemaline myopathy
I M P Gommans, B G M van Engelen, H J ter Laak, et al.
Journal of Medical Genetics
|
August 1, 1994
Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family
C E de Die-Smulders, C J Höweler, J F Mirandolle, et al.
Human Molecular Genetics
|
April 4, 2002
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63
Pascal H G Duijf, Kaate R J Vanmolkot, Peter Propping, et al.
American Journal of Human Genetics
|
September 5, 2017
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes
Stefan H Lelieveld, Laurens Wiel, Hanka Venselaar, et al.
Genes, Brain, and Behavior
|
July 9, 2021
Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome
Lot Snijders Blok, Y Max Goosen, Leenke van Haaften, et al.
The Journal of Clinical Investigation
|
September 1, 1996
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene
H H Lemmink, W N Nillesen, T Mochizuki, et al.
Page
of 73
Search research articles
Search
Showing results (341-350 of 727) with videos related to
Sort By:
Page
of 73
Human Reproduction (Oxford, England)
|
November 6, 1998
Does intracytoplasmic sperm injection lead to a rise in the frequency of microdeletions in the AZFc region of the Y chromosome in future generations?
J A Kremer, J H Tuerlings, G Borm, et al.
Journal of Cellular Physiology
|
July 8, 1999
Cellular glycosylphosphatidylinositol-specific phospholipase D regulates urokinase receptor shedding and cell surface expression
O G Wilhelm, S Wilhelm, G M Escott, et al.
American Journal of Human Genetics
|
December 23, 2022
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders
Laurens Wiel, Juliet E Hampstead, Hanka Venselaar, et al.
Molecular Syndromology
|
July 24, 2012
A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome
A T Vulto-van Silfhout, A F M de Brouwer, N de Leeuw, et al.
Neuromuscular Disorders : NMD
|
December 4, 2001
A new phenotype of autosomal dominant nemaline myopathy
I M P Gommans, B G M van Engelen, H J ter Laak, et al.
Journal of Medical Genetics
|
August 1, 1994
Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family
C E de Die-Smulders, C J Höweler, J F Mirandolle, et al.
Human Molecular Genetics
|
April 4, 2002
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63
Pascal H G Duijf, Kaate R J Vanmolkot, Peter Propping, et al.
American Journal of Human Genetics
|
September 5, 2017
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes
Stefan H Lelieveld, Laurens Wiel, Hanka Venselaar, et al.
Genes, Brain, and Behavior
|
July 9, 2021
Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome
Lot Snijders Blok, Y Max Goosen, Leenke van Haaften, et al.
The Journal of Clinical Investigation
|
September 1, 1996
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene
H H Lemmink, W N Nillesen, T Mochizuki, et al.
Page
of 73