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P Adam

Showing results (541-550 of 555) with videos related to

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Journal of Medicinal Chemistry|November 3, 2015
Triphenylethanamine Derivatives as Cholesteryl Ester Transfer Protein Inhibitors: Discovery of N-[(1R)-1-(3-Cyclopropoxy-4-fluorophenyl)-1-[3-fluoro-5-(1,1,2,2-tetrafluoroethoxy)phenyl]-2-phenylethyl]-4-fluoro-3-(trifluoromethyl)benzamide (BMS-795311)Jennifer X Qiao, Tammy C Wang, Leonard P Adam, et al.
American Journal of Human Genetics|May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller, Margaret P Adam, Swaroop Aradhya, et al.
American Journal of Human Genetics|November 9, 2010
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophreniaDaniel Moreno-De-Luca, , Jennifer G Mulle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Recommendations for the integration of genomics into clinical practiceSarah Bowdin, Adel Gilbert, Emma Bedoukian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Juanita Neira, Davut Pehlivan, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Orphanet Journal of Rare Diseases|June 17, 2020
Mowat-Wilson syndrome: growth chartsIvan Ivanovski, Olivera Djuric, Serena Broccoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsLivia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.
Pageof 56

Showing results (541-550 of 555) with videos related to

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Pageof 56
Journal of Medicinal Chemistry|November 3, 2015
Triphenylethanamine Derivatives as Cholesteryl Ester Transfer Protein Inhibitors: Discovery of N-[(1R)-1-(3-Cyclopropoxy-4-fluorophenyl)-1-[3-fluoro-5-(1,1,2,2-tetrafluoroethoxy)phenyl]-2-phenylethyl]-4-fluoro-3-(trifluoromethyl)benzamide (BMS-795311)Jennifer X Qiao, Tammy C Wang, Leonard P Adam, et al.
American Journal of Human Genetics|May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller, Margaret P Adam, Swaroop Aradhya, et al.
American Journal of Human Genetics|November 9, 2010
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophreniaDaniel Moreno-De-Luca, , Jennifer G Mulle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Recommendations for the integration of genomics into clinical practiceSarah Bowdin, Adel Gilbert, Emma Bedoukian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Juanita Neira, Davut Pehlivan, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Orphanet Journal of Rare Diseases|June 17, 2020
Mowat-Wilson syndrome: growth chartsIvan Ivanovski, Olivera Djuric, Serena Broccoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsLivia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.
Pageof 56