Resultats de la cerca - Hamosh, Ada

Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes per Amberger, Joanna S., Hamosh, Ada

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What’s in a name? Issues to consider when naming Mendelian disorders per Rasmussen, Sonja A., Hamosh, Ada

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Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction per Rasmussen, Sonja A., Hamosh, Ada

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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene per Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada

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Viewing Victor McKusick’s Legacy through the Lens of his Bibliography per Rasmussen, Sonja A., Pomputius, Ariel, Amberger, Joanna S., Hamosh, Ada

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Three decades of the Human Genome Organization per Lee, Charles, Antonarakis, Stylianos E., Hamosh, Ada, Burn, John

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McKusick's Online Mendelian Inheritance in Man (OMIM®) per Amberger, Joanna, Bocchini, Carol A., Scott, Alan F., Hamosh, Ada

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New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene per Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada

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Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles per Diehl, Adam C., Reader, Lauren, Hamosh, Ada, Bodurtha, Joann N.

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OMIM.org: leveraging knowledge across phenotype–gene relationships per Amberger, Joanna S, Bocchini, Carol A, Scott, Alan F, Hamosh, Ada

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Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy per Martino, Teresa, Koerner, Celide, Yenokyan, Gayane, Hoover-Fong, Julie, Hamosh, Ada

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Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking per Boycott, Kym M., Azzariti, Danielle R., Hamosh, Ada, Rehm, Heidi L.

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OMIM.org: Online Mendelian Inheritance in Man (OMIM(®)), an online catalog of human genes and genetic disorders per Amberger, Joanna S., Bocchini, Carol A., Schiettecatte, François, Scott, Alan F., Hamosh, Ada

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Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus per Hamosh, Ada, Amberger, Joanna S., Bocchini, Carol, Scott, Alan F., Rasmussen, Sonja A.

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders per Hamosh, Ada, Scott, Alan F., Amberger, Joanna S., Bocchini, Carol A., McKusick, Victor A.

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders per Hamosh, Ada, Scott, Alan F., Amberger, Joanna, Bocchini, Carol, Valle, David, McKusick, Victor A.

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PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features per Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V Reid, Boehm, Corinne, Schiettecatte, François, Valle, David

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The Management of Pregnancy and Delivery in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency per Pipitone, Angela, Raval, Donna B., Duis, Jessica, Vernon, Hilary, Martin, Regina, Hamosh, Ada, Valle, David, Gunay-Aygun, Meral

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Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases per Smedley, Damian, Köhler, Sebastian, Czeschik, Johanna Christina, Amberger, Joanna, Bocchini, Carol, Hamosh, Ada, Veldboer, Julian, Zemojtel, Tomasz, Robinson, Peter N.

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Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics per Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara

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