Coffee, Bradford : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Campagne de collecte 15 septembre 2024 – 1 octobre 2024

Z-Library est une des plus grandes bibliothèques en ligne dans le monde, avec le stockage de plus de 17,000,000 livres et plus de 84,837,000 articles. Nous encourageons l'accès libre de chacun à la littérature. Aujourd'hui (15 septembre 2024) nous faisons un appel de fonds à tous ceux qui veulent contribuer encore plus au soutien et au développement de notre projet.

Les téléchargements SANS LIMITE sont aussi (au cours de 31 jours après la date de don) disponibles pour TOUS les utilisateurs qui soient en mesure de soutenir le projet pendant la période de collecte de fonds jusqu'au 1 octobre 2024.

C'est quoi, la collecte de fonds?En savoir plus

Faire un don

Livres
Articles (34)
Les plus populaires
Liste
- Liste
- Tableau

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Jones, Melanie A., Rhodenizer, Devin, da Silva, Cristina, Huff, Israel J., Keong, Lisa, Bean, Lora J.H., Coffee, Bradford, Collins, Christin, Tanner, Alice K., He, Miao, Hegde, Madhuri R.

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 605 KB

english, 2013

Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 ( TNNT1 ) gene: A case outside of the old order amish

Marra, Jonathan D., Engelstad, Kristin E., Ankala, Arunkanth, Tanji, Kurenai, Dastgir, Jahannaz, De Vivo, Darryl C., Coffee, Bradford, Chiriboga, Claudia A.

Journal:

Muscle & Nerve

Année:

2015

Langue:

english

Fichier:

PDF, 371 KB

english, 2015

Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle

Bowles, Karla R, Mancini-DiNardo, Debora, Coffee, Bradford, Cox, Hannah C, Qian, Yaping, Elias, Maria, Singh, Nanda, Judkins, Thaddeus, Leclair, Benoît, Roa, Benjamin B

Journal:

Future Oncology

Année:

2019

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2019

Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing

Slavin, Thomas P., Coffee, Bradford, Bernhisel, Ryan, Logan, Jennifer, Cox, Hannah C., Marcucci, Guido, Weitzel, Jeffrey, Neuhausen, Susan L., Mancini-DiNardo, Debora

Journal:

Cancer Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 875 KB

english, 2019

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

Bradford Coffee, Morna Ikeda, Dejan B. Budimirovic, Lawrence N. Hjelm, Walter E. Kaufmann, Stephen T. Warren

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 402 KB

english, 2008

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males

Stephen C. Collins, Steven M. Bray, Joshua A. Suhl, David J. Cutler, Bradford Coffee, Michael E. Zwick, Stephen T. Warren

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 241 KB

english, 2010

10.1038/8807

Reines, Daniel, Coffee, Bradford, Zhang, Fuping, Warren, Stephen T.

Journal:

Nature Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 289 KB

english, 1999

10.1038/9771

Coffee et al., Bradford

Journal:

Nature Biotechnology

Année:

1999

Langue:

english

Fichier:

PDF, 50 KB

english, 1999

10.1038/9738

Coffee et al., Bradford

Journal:

Nature Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 110 KB

english, 1999

Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

Bradford Coffee, Krayton Keith, Igor Albizua, Tamika Malone, Julie Mowrey, Stephanie L. Sherman, Stephen T. Warren

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 597 KB

english, 2009

Utilizing inhibin-B levels to diagnose menopause in patients using oral contraceptive pills

J.C. Bradford, I. Witt, A.L. Kuehl, A. Coffee, T.J. Kuehl, P.J. Sulak

Journal:

Fertility and Sterility

Année:

2008

Langue:

english

Fichier:

PDF, 56 KB

english, 2008

Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies

Patrick Yu-Wai-Man, Suma P. Shankar, Valérie Biousse, Neil R. Miller, Lora J.H. Bean, Bradford Coffee, Madhuri Hegde, Nancy J. Newman

Journal:

Ophthalmology

Année:

2011

Langue:

english

Fichier:

PDF, 401 KB

english, 2011

Histone Modifications Depict an Aberrantly Heterochromatinized FMR1 Gene in Fragile X Syndrome

Bradford Coffee, Fuping Zhang, Stephanie Ceman, Stephen T. Warren, Daniel Reines

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 403 KB

english, 2002

Guide to Mutation Detection

Bradford Coffee

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 68 KB

english, 2005

A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis

Lawrence N. Hjelm, Ephrem L.H. Chin, Madhuri R. Hegde, Bradford W. Coffee, Lora J.H. Bean

Journal:

The Journal of Molecular Diagnostics

Année:

2010

Langue:

english

Fichier:

PDF, 227 KB

english, 2010

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria

Meghan E. Quirk, Steven F. Dobrowolski, Benjamin E. Nelson, Bradford Coffee, Rani H. Singh

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 244 KB

english, 2012

Detection limit of intragenic deletions with targeted array comparative genomic hybridization

Askree, S, Chin, Ephrem LH, Bean, Lora H, Coffee, Bradford, Tanner, Alice, Hegde, Madhuri

Journal:

BMC Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 791 KB

english, 2013

Alpha-L-iduronidase pseudodeficiency: a case series

Cagle, Stephanie, Schroer, Richard, Pollard, Laura, Wood, Tim, Coffee, Bradford

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 50 KB

english, 2014

Reviews and Notices of Books.

Jones, Melanie A., Rhodenizer, Devin, da Silva, Cristina, Huff, Israel J., Keong, Lisa, Bean, Lora J.H., Coffee, Bradford, Collins, Christin, Tanner, Alice K., He, Miao, Hegde, Madhuri R.

Journal:

The Lancet

Année:

1861

Langue:

english

Fichier:

PDF, 573 KB

english, 1861

Allelic Dropout Can Cause False-Positive Results for Prader-Willi and Angelman Syndrome Testing

Hussain Askree, Syed, Hjelm, Lawrence N., Ali Pervaiz, Muhammad, Adam, Margaret, Bean, Lora J.H., Hedge, Madhuri, Coffee, Bradford

Journal:

The Journal of Molecular Diagnostics

Année:

2011

Langue:

english

Fichier:

PDF, 621 KB

english, 2011

Parent-of-Origin Testing for 15q11-q13 Gains by Quantitative DNA Methylation Analysis

Askree, S. Hussain, Dharamrup, Shika, Hjelm, Lawrence N., Coffee, Bradford

Journal:

The Journal of Molecular Diagnostics

Année:

2012

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2012

Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene

Coffee, Bradford, Hjelm, Lawrence N, Delorenzo, Angela, Courtney, Ebony M, Yu, Chunli, Muralidharan, Kasinathan

Journal:

Genetics in Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 1005 KB

english, 2006

Molecular diagnosis of Beckwith-Wiedemann Syndrome using quantitative methylation-sensitive polymerase chain reaction

Coffee, Bradford, Muralidharan, Kasinathan, Highsmith, William E, Lapunzina, Pablo, Warren, Stephen T

Journal:

Genetics in Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2006

Gene sequence of feline tumor necrosis factor alpha

McGraw, Royal, Coffee, Bradford W., Otto, Cynthia M., Drews, Roman T., Rawlings, Clarence A.

Journal:

Nucleic Acids Research

Année:

1990

Langue:

english

Fichier:

PDF, 88 KB

english, 1990

Gene sequence of porcine tumor necrosis factor alpha

Drews, Roman T., Coffee, Bradford W., Prestwood, Annie K., McGraw, Royal A.

Journal:

Nucleic Acids Research

Année:

1990

Langue:

english

Fichier:

PDF, 101 KB

english, 1990

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

Tayeh, Marwan K, Chin, Ephrem L H, Miller, Vanessa R, Bean, Lora J H, Coffee, Bradford, Hegde, Madhuri

Journal:

Genetics in Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 681 KB

english, 2009

Commentary on population screening for fragile X syndrome

Coffee, Bradford

Journal:

Genetics in Medicine

Année:

2010

Langue:

english

Fichier:

PDF, 75 KB

english, 2010

Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome

Xue, Yuan, Shankar, Suma, Cornell, Kristen, Dai, Zunyan, Wang, Chuan-En, Rudd, M. Katherine, Coffee, Bradford

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 739 KB

english, 2015

Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel

Coffee, Bradford, Cox, Hannah C., Kidd, John, Sizemore, Scott, Brown, Krystal, Manley, Susan, Mancini-DiNardo, Debora

Journal:

Cancer Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 750 KB

english, 2017

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)

Pasquali, Marzia, Yu, Chunli, Coffee, Bradford

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 253 KB

english, 2017

Identification of pathogenic retrotransposon insertions in cancer predisposition genes

Qian, Yaping, Mancini-DiNardo, Debora, Judkins, Thaddeus, Cox, Hannah C., Brown, Krystal, Elias, Maria, Singh, Nanda, Daniels, Courtney, Holladay, Jayson, Coffee, Bradford, Bowles, Karla R., Roa, Benj

Journal:

Cancer Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2017

Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant

Nix, Paola, Mundt, Erin, Manley, Susan, Coffee, Bradford, Roa, Benjamin

Journal:

JCO Precision Oncology

Année:

2020

Fichier:

PDF, 692 KB

2020

Reply to R. Karam et al

Nix, Paola, Mundt, Erin, Manley, Susan, Coffee, Bradford, Roa, Benjamin

Journal:

JCO Precision Oncology

Année:

2020

Fichier:

PDF, 505 KB

2020

15297 Identification of pathogenic variants in patients with melanoma who meet NCCN criteria for hereditary breast and ovarian cancer and Lynch syndrome testing

Comeaux, Matthew, Kidd, John, Larson, Katie, Caldwell, Megan, Coffee, Bradford

Journal:

Journal of the American Academy of Dermatology

Année:

2020

Fichier:

PDF, 483 KB

2020