skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Refinado por: Nome da Publicação: Genetics In Medicine remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Neuroimaging findings in Mowat–Wilson syndrome a study of 54 patients
Neuroimaging findings in Mowat–Wilson syndrome a study of 54 patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Neuroimaging findings in Mowat–Wilson syndrome a study of 54 patients

Livia Garavelli Ivan Ivanovski; Stefano Giuseppe Caraffi; Daniela Santodirocco; Marzia Pollazzon; Duccio Maria Cordelli; Ebtesam Abdalla; Patrizia Accorsi; Margaret P Adam; Chiara Baldo; Allan Bayat; Elga Belligni; Federico Bonvicini; Jeroen Breckpot; Bert Callewaert; Guido Cocchi; Goran Cuturilo; Koenraad Devriendt; Mary Beth Dinulos; Olivera Djuric; Roberta Epifanio; Francesca Faravelli; Debora Formisano; Lucio Giordano; Marina Grasso; Sabine Grønborg; Alessandro Iodice; Lorenzo Iughetti; Didier Lacombe; Massimo Maggi; Baris Malbora; Isabella Mammi; Sebastien Moutton; Rikke Møller; Petra Muschke; Manuela Napoli; Chiara Pantaleoni; Rosario Pascarella; Alessandro Pellicciari; Maria Luisa Poch-Olive; Federico Raviglione; Francesca Rivieri; Carmela Russo; Salvatore Savasta; Gioacchino Scarano; Angelo Selicorni; Margherita Silengo; Giovanni Sorge; Luigi Tarani; Luiz Gonzaga Tone; Annick Toutain; Aurelien Trimouille; Elvis Terci Valera; Samantha Schrier Vergano; Nicoletta Zanotta; Marcella Zollino; William B Dobyns; Alex R Paciorkowski

Genetics in Medicine New York v. 19, n. 6, p. 691-700, 2017

New York 2017

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2842762 Estantes Deslizantes )(Acessar)

2
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
Material Type:
Artigo 		Adicionar ao Meu Espaço

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Mitter, Diana ; Pringsheim, Milka ; Kaulisch, Marc ; Plümacher, Kim Sarah ; Schröder, Simone ; Warthemann, Rita ; Abou Jamra, Rami ; Baethmann, Martina ; Bast, Thomas ; Büttel, Hans-Martin ; Cohen, Julie S. ; Conover, Elizabeth ; Courage, Carolina ; Eger, Angelika ; Fatemi, Ali ; Grebe, Theresa A. ; Hauser, Natalie S. ; Heinritz, Wolfram ; Helbig, Katherine L. ; Heruth, Marion ; Huhle, Dagmar ; Höft, Karen ; Karch, Stephanie ; Kluger, Gerhard ; Korenke, G. Christoph ; Lemke, Johannes R. ; Lutz, Richard E. ; Patzer, Steffi ; Prehl, Isabelle ; Hoertnagel, Konstanze ; Ramsey, Keri ; Rating, Tina ; Rieß, Angelika ; Rohena, Luis ; Schimmel, Mareike ; Westman, Rachel ; Zech, Frank-Martin ; Zoll, Barbara ; Malzahn, Dörthe ; Zirn, Birgit ; Brockmann, Knut

Genetics in medicine, 2018-01, Vol.20 (1), p.98-108 [Periódico revisado por pares]

United States: Elsevier Inc

Sem texto completo

Citações Citado por
3
Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapyselection
Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapyselection
Material Type:
Artigo 		Adicionar ao Meu Espaço

Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapyselection

Beitelshees, Amber L ; Stevenson, James M ; El Rouby Nihal ; Dillon Chrisly ; Empey, Philip E ; Fielstein, Elliot M ; Johnson, Julie A ; Limdi, Nita A ; Ong, Henry H ; Franchi, Francesco ; Angiolillo, Dominick J ; Peterson, Joshua F ; Rosenman, Marc B ; Skaar, Todd C ; Tuteja Sony ; Cavallari, Larisa H

Genetics in medicine, 2020-11, Vol.22 (11), p.1898-1902 [Periódico revisado por pares]

Bethesda: Elsevier Limited

Sem texto completo

Citações Citado por
4
Response to Yang et al
Response to Yang et al
Material Type:
Artigo 		Adicionar ao Meu Espaço

Response to Yang et al

Olkinuora, A ; Nieminen, T T ; Nordling, M ; Peltomäki, P

Genetics in medicine, 2019-11, Vol.21 (11), p.2652-2653 [Periódico revisado por pares]

United States: Elsevier Limited

Sem texto completo

Citações Citado por
5
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Hershberger, Ray E ; Givertz, Michael M ; Ho, Carolyn Y ; Judge, Daniel P ; Kantor, Paul F ; McBride, Kim L ; Morales, Ana ; Taylor, Matthew R G ; Vatta, Matteo ; Ware, Stephanie M

Genetics in medicine, 2018-09, Vol.20 (9), p.899-909 [Periódico revisado por pares]

United States: Elsevier Limited

Sem texto completo

Citações Citado por
6
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
Material Type:
Artigo 		Adicionar ao Meu Espaço

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

Garbade, Sven F ; Shen, Nan ; Himmelreich, Nastassja ; Haas, Dorothea ; Trefz, Friedrich K ; Hoffmann, Georg F ; Burgard, Peter ; Blau, Nenad

Genetics in medicine, 2019-03, Vol.21 (3), p.580-590 [Periódico revisado por pares]

United States: Elsevier Limited

Sem texto completo

Citações Citado por
7
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Arnaud, Pauline ; Milleron, Olivier ; Hanna, Nadine ; Ropers, Jacques ; Ould Ouali, Nadia ; Affoune, Amel ; Langeois, Maud ; Eliahou, Ludivine ; Arnoult, Florence ; Renard, Philippe ; Michelon-Jouneaux, Marlène ; Cotillon, Marie ; Gouya, Laurent ; Boileau, Catherine ; Jondeau, Guillaume

Genetics in medicine, 2021-07, Vol.23 (7), p.1296-1304 [Periódico revisado por pares]

United States: Elsevier Inc

Sem texto completo

Citações Citado por
8
KAT6A Syndrome: genotype–phenotype correlation in 76 patientswith pathogenic KAT6A variants
KAT6A Syndrome: genotype–phenotype correlation in 76 patientswith pathogenic KAT6A variants
Material Type:
Artigo 		Adicionar ao Meu Espaço

KAT6A Syndrome: genotype–phenotype correlation in 76 patientswith pathogenic KAT6A variants

Kennedy, Joanna ; Goudie, David ; Blair, Edward ; Chandler, Kate ; Joss Shelagh ; McKay, Victoria ; Green, Andrew ; Armstrong, Ruth ; Lees, Melissa ; Kamien, Benjamin ; Hopper, Bruce ; Yang, Tan Tiong ; Yap, Patrick ; Stark Zornitza ; Okamoto Nobuhiko ; Miyake Noriko ; Matsumoto Naomichi ; Macnamara, Ellen ; Murphy, Jennifer L ; McCormick, Elizabeth ; Hakonarson Hakon ; Falk, Marni J ; Li, Dong ; Blackburn, Patrick ; Klee, Eric ; Babovic-Vuksanovic Dusica ; Schelley, Susan ; Hudgins Louanne ; Kant Sarina ; Bertrand, Isidor ; Cogne, Benjamin ; Bradbury, Kimberley ; Williams, Mark ; Patel, Chirag ; Heussler Helen ; Duff-Farrier, Celia ; Lakeman Phillis ; Scurr, Ingrid ; Kini Usha ; Elting Mariet ; Reijnders Margot ; Schuurs-Hoeijmakers Janneke ; Wafik, Mohamed ; Blomhoff, Anne ; Ruivenkamp Claudia A L ; Nibbeling Esther ; Dingemans Alexander J M ; Douine, Emilie D ; Nelson, Stanley F ; Hempel Maja ; Bierhals Tatjana ; Lessel Davor ; Johannsen Jessika ; Arboleda, Valerie A ; Newbury-Ecob Ruth

Genetics in medicine, 2019-04, Vol.21 (4), p.850-860 [Periódico revisado por pares]

Bethesda: Elsevier Limited

Sem texto completo

Citações Citado por
9
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
Material Type:
Artigo 		Adicionar ao Meu Espaço

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Wenger, Brittany M. ; Patel, Nihir ; Lui, Madeline ; Moscati, Arden ; Do, Ron ; Stewart, Douglas R. ; Tartaglia, Marco ; Muiño-Mosquera, Laura ; De Backer, Julie ; Kontorovich, Amy R. ; Gelb, Bruce D.

Genetics in medicine, 2021-01, Vol.23 (1), p.94-102 [Periódico revisado por pares]

United States: Elsevier Inc

Sem texto completo

Citações Citado por
10
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum

Legrand, Anne ; Cornez, Laurence ; Samkari, Wafa ; Mazzella, Jean-Michael ; Venisse, Annabelle ; Boccio, Valérie ; Auribault, Karine ; Keren, Boris ; Benistan, Karelle ; Germain, Dominique P ; Frank, Michael ; Jeunemaitre, Xavier ; Albuisson, Juliette

Genetics in medicine, 2017-08, Vol.19 (8), p.909-917 [Periódico revisado por pares]

United States: Elsevier Limited

Sem texto completo

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Data de Publicação 

De até
Refinar
  1. Antes de2002  (23)
  2. 2002Até2006  (49)
  3. 2007Até2011  (51)
  4. 2012Até2017  (80)
  5. Após 2017  (175)
  6. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Accorsi, P
  2. Dinulos, M
  3. Santodirocco, D
  4. Vergano, S
  5. Rivieri, F

Neste Assunto:

  1. Humans
  2. Genetics & Heredity
  3. Life Sciences & Biomedicine
  4. Science & Technology
  5. Genotype

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.