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W Scherer

Showing results (601-610 of 915) with videos related to

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BMC Medical Genomics|February 19, 2022
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretationRoozbeh Manshaei, Sean DeLong, Veronica Andric, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 17, 2006
Hotspots for copy number variation in chimpanzees and humansGeorge H Perry, Joelle Tchinda, Sean D McGrath, et al.
Psychiatric Genetics|May 23, 2008
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpointsJohn B Vincent, Sanaa Choufani, Shin-ichi Horike, et al.
The Journal of Biological Chemistry|September 13, 1996
Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in humanJ Rowles, S W Scherer, T Xi, et al.
Genomics|February 12, 1998
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody diseaseA Odermatt, P E Taschner, S W Scherer, et al.
Leukemia|June 1, 2022
Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemiaHoutan Moshiri, David A Cabrera Riofrío, Yeon Jung Lim, et al.
Scientific Reports|September 16, 2017
Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental DisordersDanielle A Baribeau, Annie Dupuis, Tara A Paton, et al.
Nature Genetics|September 6, 2000
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearingA N Smith, J Skaug, K A Choate, et al.
Clinical Genetics|November 23, 2016
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathyC Peña-Padilla, C R Marshall, S Walker, et al.
JAMA Ophthalmology|October 11, 2019
Evaluation of Systematic Reviews of Interventions for Retina and Vitreous ConditionsJimmy T Le, Riaz Qureshi, Claire Twose, et al.
Pageof 92

Showing results (601-610 of 915) with videos related to

Sort By:
Pageof 92
BMC Medical Genomics|February 19, 2022
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretationRoozbeh Manshaei, Sean DeLong, Veronica Andric, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 17, 2006
Hotspots for copy number variation in chimpanzees and humansGeorge H Perry, Joelle Tchinda, Sean D McGrath, et al.
Psychiatric Genetics|May 23, 2008
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpointsJohn B Vincent, Sanaa Choufani, Shin-ichi Horike, et al.
The Journal of Biological Chemistry|September 13, 1996
Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in humanJ Rowles, S W Scherer, T Xi, et al.
Genomics|February 12, 1998
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody diseaseA Odermatt, P E Taschner, S W Scherer, et al.
Leukemia|June 1, 2022
Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemiaHoutan Moshiri, David A Cabrera Riofrío, Yeon Jung Lim, et al.
Scientific Reports|September 16, 2017
Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental DisordersDanielle A Baribeau, Annie Dupuis, Tara A Paton, et al.
Nature Genetics|September 6, 2000
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearingA N Smith, J Skaug, K A Choate, et al.
Clinical Genetics|November 23, 2016
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathyC Peña-Padilla, C R Marshall, S Walker, et al.
JAMA Ophthalmology|October 11, 2019
Evaluation of Systematic Reviews of Interventions for Retina and Vitreous ConditionsJimmy T Le, Riaz Qureshi, Claire Twose, et al.
Pageof 92