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Refinado por: assunto: Biochemistry & Molecular Biology remover Nome da Publicação: European Journal Of Human Genetics : Ejhg remover
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1
Inflammasome genetics and complex diseases: a comprehensive review
Inflammasome genetics and complex diseases: a comprehensive review
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Inflammasome genetics and complex diseases: a comprehensive review

Fernandes, Fernanda Pereira ; Leal, Vinicius N C ; Souza de Lima, Dhemerson ; Reis, Edione C ; Pontillo, Alessandra

European journal of human genetics : EJHG, 2020-10, Vol.28 (10), p.1307-1321 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry
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Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

Chakchouk, Imen ; Zhang, Di ; Zhang, Zhihui ; Francioli, Laurent C ; Santos-Cortez, Regie Lyn P ; Schrauwen, Isabelle ; Leal, Suzanne M

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1456-1465 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
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Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

Ansar, Muhammad ; Jan, Abid ; Santos-Cortez, Regie Lyn P ; Wang, Xin ; Suliman, Muhammad ; Acharya, Anushree ; Habib, Rabia ; Abbe, Izoduwa ; Ali, Ghazanfar ; Lee, Kwanghyuk ; Smith, Joshua D ; Nickerson, Deborah A ; Shendure, Jay ; Bamshad, Michael J ; Ahmad, Wasim ; Leal, Suzanne M

European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1223-1227 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Challenges and solutions for gene identification in the presence of familial locus heterogeneity
Challenges and solutions for gene identification in the presence of familial locus heterogeneity
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Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Rehman, Atteeq U ; Santos-Cortez, Regie Lyn P ; Drummond, Meghan C ; Shahzad, Mohsin ; Lee, Kwanghyuk ; Morell, Robert J ; Ansar, Muhammad ; Jan, Abid ; Wang, Xin ; Aziz, Abdul ; Riazuddin, Saima ; Smith, Joshua D ; Wang, Gao T ; Ahmed, Zubair M ; Gul, Khitab ; Shearer, A Eliot ; Smith, Richard J H ; Shendure, Jay ; Bamshad, Michael J ; Nickerson, Deborah A ; Hinnant, John ; Khan, Shaheen N ; Fisher, Rachel A ; Ahmad, Wasim ; Friderici, Karen H ; Riazuddin, Sheikh ; Friedman, Thomas B ; Wilch, Ellen S ; Leal, Suzanne M

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1207-1215 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice
Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice
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Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

COSTA, Maria Do ; MAGALHAES, Paula ; MAGALHAES, Marina ; SOUSA, Alda ; MACIEL, Patricia ; SEQUEIROS, Jorge ; FERREIRINHA, Fatima ; GUIMARAES, Laura ; JANUARIO, Cristina ; GASPAR, Isabel ; LOUREIRO, Leal ; VALE, José ; GARRETT, Carolina ; REGATEIRO, Fernando

European journal of human genetics : EJHG, 2003-11, Vol.11 (11), p.872-878 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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6
A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9
A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9
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A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9

Leal, S M ; Apaydin, F ; Barnwell, C ; Iber, M ; Kandogan, T ; Pfister, M ; Braendle, U ; Cura, O ; Schwalb, M ; Zenner, H P ; Vitale, E

European journal of human genetics : EJHG, 1998-07, Vol.6 (4), p.341-344 [Periódico revisado por pares]

England

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