skip to main content
Idioma:
Refinado por: Nome da Publicação: European Journal of Human Genetics remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Schmitz-Abe, Klaus ; Li, Qifei ; Rosen, Samantha M ; Nori, Neeharika ; Madden, Jill A ; Genetti, Casie A ; Wojcik, Monica H ; Ponnaluri, Sadhana ; Gubbels, Cynthia S ; Picker, Jonathan D ; O'Donnell-Luria, Anne H ; Yu, Timothy W ; Bodamer, Olaf ; Brownstein, Catherine A ; Beggs, Alan H ; Agrawal, Pankaj B

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1398-1405 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
2
Regulatory variants of FOXG1 in the context of its topological domain organisation
Regulatory variants of FOXG1 in the context of its topological domain organisation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Regulatory variants of FOXG1 in the context of its topological domain organisation

Mana M Mehrjouy Ana Carolina S Fonseca; Nadja Ehmke; Giorgio Paskulin; Antonio Novelli; Francesco Benedicenti; Maria Antonietta Mencarelli; Alessandra Renieri; Tiffany Busa; Chantal Missirian; Claus Hansen; Kikue Terada Abe; Carlos Eduardo Speck-Martins; Angela M Vianna-Morgante; Mads Bak; Niels Tommerup

European Journal of Human Genetics London online, Dec. 2017

London 2017

Item não circula. Consulte sua biblioteca.(Acessar)

3
Connexin 26 mutations in cases of sensorineural deafness in eastern Austria
Connexin 26 mutations in cases of sensorineural deafness in eastern Austria
Material Type:
Artigo 		Adicionar ao Meu Espaço

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

Frei, Klemens ; Szuhai, Károly ; Lucas, Trevor ; Weipoltshammer, Klara ; Schöfer, Christian ; Ramsebner, Reinhard ; Baumgartner, Wolf-Dieter ; Raap, Anton K ; Bittner, Reginald ; Wachtler, Franz J ; Kirschhofer, Karin

European journal of human genetics : EJHG, 2002-07, Vol.10 (7), p.427-432 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
4
Primary intestinal lymphangiectasia congenital report of one case
Primary intestinal lymphangiectasia congenital report of one case
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Primary intestinal lymphangiectasia congenital report of one case

I. R. Assumpção A. Z Pfeiffer; Yu Kar Ling Koda; K. A Furuta; Cristina Miuki Abe Jacob Abe; K Yhira; Lilian Maria José Albano; Chong Ae Kim; European Human Genetics Conference (2002 Strasbourg, France); European Meeting on Psychosocial Aspects of Genetics (2002 Strasbourg, France)

European Journal of Human Genetics New York v. 10, supl. 1, p. 112, res. PO178, 2002

New York 2002

Localização: FM - Fac. Medicina    (BCSEP 2002 291 ) e outros locais(Acessar)

5
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world
Material Type:
Artigo 		Adicionar ao Meu Espaço

Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

Lund, A ; Udd, B ; Juvonen, V ; Andersen, P M ; Cederquist, K ; Davis, M ; Gellera, C ; Kölmel, C ; Ronnevi, L O ; Sperfeld, A D ; Sörensen, S A ; Tranebjaerg, L ; Van Maldergem, L ; Watanabe, M ; Weber, M ; Yeung, L ; Savontaus, M L

European journal of human genetics : EJHG, 2001-06, Vol.9 (6), p.431-436 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
6
A genome-wide association study for age-related hearing impairment in the Saami
A genome-wide association study for age-related hearing impairment in the Saami
Material Type:
Artigo 		Adicionar ao Meu Espaço

A genome-wide association study for age-related hearing impairment in the Saami

VAN LAER, Lut ; HUYGHE, Jeroen R ; HUENTELMAN, Matthew J ; VAN CAMP, Guy ; HANNULA, Samuli ; VAN EYKEN, Els ; STEPHAN, Dietrich A ; MÄKI-TORKKO, Elina ; AIKIO, Pekka ; FRANSEN, Erik ; LYSHOLM-BERNACCHI, Alana ; SORRI, Martti

European journal of human genetics : EJHG, 2010-06, Vol.18 (6), p.685-693 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

Texto completo disponível

Citações Citado por
7
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

Yamoto, Kaori ; Saitsu, Hirotomo ; Nishimura, Gen ; Kosaki, Rika ; Takayama, Shinichiro ; Haga, Nobuhiko ; Tonoki, Hidefumi ; Okumura, Akihisa ; Horii, Emiko ; Okamoto, Nobuhiko ; Suzumura, Hiroshi ; Ikegawa, Shiro ; Kato, Fumiko ; Fujisawa, Yasuko ; Nagata, Eiko ; Takada, Shuji ; Fukami, Maki ; Ogata, Tsutomu

European journal of human genetics : EJHG, 2019-12, Vol.27 (12), p.1845-1857 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
8
GWAS of five gynecologic diseases and cross-trait analysis in Japanese
GWAS of five gynecologic diseases and cross-trait analysis in Japanese
Material Type:
Artigo 		Adicionar ao Meu Espaço

GWAS of five gynecologic diseases and cross-trait analysis in Japanese

Masuda, Tatsuo ; Low, Siew-Kee ; Akiyama, Masato ; Hirata, Makoto ; Ueda, Yutaka ; Matsuda, Koichi ; Kimura, Tadashi ; Murakami, Yoshinori ; Kubo, Michiaki ; Kamatani, Yoichiro ; Okada, Yukinori

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.95-107 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
9
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Material Type:
Artigo 		Adicionar ao Meu Espaço

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Appelhof, Bart ; Wagner, Matias ; Hoefele, Julia ; Heinze, Anja ; Roser, Timo ; Koch-Hogrebe, Margarete ; Roosendaal, Stefan D ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Yahya Vahidi ; Torti, Erin ; Houlden, Henry ; Maroofian, Reza ; Rajabi, Farrah ; Sticht, Heinrich ; Baas, Frank ; Wieczorek, Dagmar ; Jamra, Rami Abou

European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.411-421 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
10
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients

de Oliveira, Jarbas Maciel ; Zurro, Nuria Bengala ; Coelho, Antonio Victor Campos ; Caraciolo, Marcel Pinheiro ; de Alexandre, Rodrigo Bertollo ; Cervato, Murilo Castro ; Minillo, Renata Moldenhauer ; de Vasconcelos Carvalho Neto, George ; Grivicich, Ivana ; Oliveira, João Bosco

European journal of human genetics : EJHG, 2022-07, Vol.30 (7), p.818-823 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Data de Publicação 

De até
Refinar
  1. Antes de2001  (3)
  2. 2001Até2005  (6)
  3. 2006Até2012  (2)
  4. 2013Até2019  (4)
  5. Após 2019  (3)
  6. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Pfeiffer, A
  2. Tommerup, N
  3. Speck-Martins, C
  4. Kim, C
  5. Abe, K

Neste Assunto:

  1. Genetics
  2. Biochemistry & Molecular Biology
  3. Genetics & Heredity
  4. Life Sciences & Biomedicine
  5. Science & Technology

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

Buscando em bases de dados remotas. Favor aguardar.