Rezultaty - William C. Nichols
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von Willebrand Disease od William C. Nichols, David Ginsburg
Wydane 1997Revisão -
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Mannose-dependent Endoplasmic Reticulum (ER)-Golgi Intermediate Compartment-53-mediated ER to Golgi Trafficking of Coagulation Factors V and VIII od Micheline J. Moussalli, Steven W. Pipe, Hans-Peter Hauri, William C. Nichols, David Ginsburg, Randal J. Kaufman
Wydane 1999Artigo -
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Tet Methylcytosine Dioxygenase 2 (<scp><i>TET2</i></scp>) Mutation Drives a Global Hypermethylation Signature in Patients With Pulmonary Arterial Hypertension (<scp>PAH</scp>): Cor... od Charles C.T. Hindmarch, François Potus, Ruaa Al‐Qazazi, Benjamin Ott, William C. Nichols, Michael J. Rauh, Stephen L. Archer
Wydane 2025Artigo -
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The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. od Kathleen A. Cooney, William C. Nichols, M E Bruck, Wadie F. Bahou, Amy D. Shapiro, Ejw Bowie, H R Gralnick, David Ginsburg
Wydane 1991Artigo -
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<i>Parkin</i> dosage mutations have greater pathogenicity in familial PD than simple sequence mutations od Nathan Pankratz, Diane Kissell, Michael W. Pauciulo, C. A. Halter, Alice Rudolph, Ronald F. Pfeiffer, Karen Marder, Tatiana Foroud, William C. Nichols
Wydane 2009Artigo -
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Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families od Nathan Pankratz, William C. Nichols, Sean K. Uniacke, Cheryl Halter, Jill R. Murrell, Alice Rudolph, Clifford W. Shults, P. Michael Conneally, Tatiana Foroud
Wydane 2003Artigo -
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A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. od A C Moses, Harold N. Rosen, David E. Moller, S. Tsuzaki, James E. Haddow, Jennifer Lawlor, J. J. Liepnieks, William C. Nichols, M D Benson
Wydane 1990Artigo -
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Mutations in <i>GBA</i> are associated with familial Parkinson disease susceptibility and age at onset od William C. Nichols, Nathan Pankratz, D. K. Marek, Michael W. Pauciulo, Veronika E. Elsaesser, C. A. Halter, A. Rudolph, J. Wojcieszek, R. F. Pfeiffer, Tatiana Foroud
Wydane 2008Artigo -
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Mutations in the ER–Golgi Intermediate Compartment Protein ERGIC-53 Cause Combined Deficiency of Coagulation Factors V and VIII od William C. Nichols, Uri Seligsohn, Ariella Zivelin, Valeri H. Terry, Colette E Hertel, Matthew Wheatley, Micheline J. Moussalli, Hans-Peter Hauri, N. Ciavarella, Randal J. Kaufman, David Ginsburg
Wydane 1998Artigo -
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High levels of placenta growth factor in sickle cell disease promote pulmonary hypertension od Nambirajan Sundaram, Anitaben Tailor, Laurel Mendelsohn, Janaka Wansapura, Xunde Wang, Tomoyasu Higashimoto, Michael W. Pauciulo, William Gottliebson, Vijay K. Kalra, William C. Nichols, Gregory J. Kato, Punam Malik
Wydane 2010Artigo -
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Genomewide association study for susceptibility genes contributing to familial Parkinson disease od Nathan Pankratz, Jemma B. Wilk, Jeanne C. Latourelle, Anita L. DeStefano, Cheryl Halter, Elizabeth Pugh, Kimberly F. Doheny, James F. Gusella, William C. Nichols, Tatiana Foroud, Richard H. Myers
Wydane 2008Artigo -
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High Frequency of <i>BMPR2</i> Exonic Deletions/Duplications in Familial Pulmonary Arterial Hypertension od Joy D. Cogan, Michael W. Pauciulo, Amy P. Batchman, Melissa Prince, Ivan M. Robbins, Lora K. Hedges, Krista C. Stanton, Lisa Wheeler, John A. Phillips, James E. Loyd, William C. Nichols
Wydane 2006Artigo -
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Frequency of <i>GBA</i> Variants in Autopsy‐proven Multiple System Atrophy od Miriam Sklerov, Un Jung Kang, Christopher Liong, Lorraine N. Clark, Karen Marder, Michael W. Pauciulo, William C. Nichols, Wendy K. Chung, Lawrence S. Honig, Etty Cortés, Jean Paul Vonsattel, Roy N. Alcalay
Wydane 2017Artigo -
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Genomewide association study for onset age in Parkinson disease od Jeanne C. Latourelle, Nathan Pankratz, Alexandra Dumitriu, Jemma B. Wilk, Stefano Goldwurm, Gianni Pezzoli, Claudio Mariani, Anita L. DeStefano, Cheryl Halter, James F. Gusella, William C. Nichols, Richard H. Myers, Tatiana Foroud
Wydane 2009Revisão
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Medicine
Biology
Genetics
Internal medicine
Gene
Disease
Pulmonary hypertension
Mutation
Parkinson's disease
Pathology
Genotype
Bioinformatics
Cardiology
Genome-wide association study
Glucocerebrosidase
Phenotype
Psychology
Single-nucleotide polymorphism
Cancer research
Chemistry
Endocrinology
Genome
Odds ratio
Allele
BMPR2
Bone morphogenetic protein
Immunology
Molecular biology
Pediatrics
Age of onset