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American Journal of Human Genetics
|
July 25, 2017
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Cinthya J Zepeda-Mendoza, Jonas Ibn-Salem, Tammy Kammin, et al.
Nature Genetics
|
November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
American Journal of Human Genetics
|
January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
Genome Medicine
|
March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Genome Medicine
|
March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
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of 3
Search research articles
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Showing results (21-30 of 25) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 25 results.
American Journal of Human Genetics
|
July 25, 2017
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Cinthya J Zepeda-Mendoza, Jonas Ibn-Salem, Tammy Kammin, et al.
Nature Genetics
|
November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
American Journal of Human Genetics
|
January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
Genome Medicine
|
March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Genome Medicine
|
March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Page
of 3