Ngā hua rapu - Clara Serra‐Juhé

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  1. 1
    Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors

    Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors mā Clara Serra‐Juhé, Eduardo F. Tizzano

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    DNA methylation abnormalities in congenital heart disease

    DNA methylation abnormalities in congenital heart disease mā Clara Serra‐Juhé, Ivon Cuscó, Aïda Homs, Raquel Flores, Núria Torán, Luis A. Pérez‐Jurado

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Thirty-years of genetic counselling education in Europe: a growing professional area

    Thirty-years of genetic counselling education in Europe: a growing professional area mā Milena Paneque, Rosie O ́Shea, Alekhya Narravula, Elen Siglen, Andrada Ciucă, Anna Abulí, Clara Serra‐Juhé

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Heterozygous rare genetic variants in non-syndromic early-onset obesity

    Heterozygous rare genetic variants in non-syndromic early-onset obesity mā Clara Serra‐Juhé, Gabriel Ángel Martos‐Moreno, Francesc Bou de Pieri, Raquel Flores, Julie A. Chowen, Luis A. Pérez‐Jurado, Jesús Argente

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

    Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis mā Lluı́s Armengol, Julián Nevado, Clara Serra‐Juhé, Alberto Plaja, C. Mediano, Fe Amalia García‐Santiago, Manel García‐Aragonés, Olaya Villa, Elena Mansilla, Cristina Preciado, Luís Fernández, María Ángeles Mori, Lidia García‐Pérez, Pablo Lapunzina, Luis A. Pérez‐Jurado

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low <scp>IGF</scp> ‐I availability

    Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low <scp>IGF</scp> ‐I availability mā Andrew Dauber, M.T. Muñoz-Calvo, Vicente Barrios, Horacio M. Domené, Søren Kløverpris, Clara Serra‐Juhé, Vardhini Desikan, Jesús Pozo, Radhika Muzumdar, Gabriel Ángel Martos‐Moreno, Federico Hawkins, Héctor Jasper, Cheryl A. Conover, Jan Frystyk, Shoshana Yakar, Vivian Hwa, Julie A. Chowen, Claus Oxvig, Ron G. Rosenfeld, Luis A. Pérez‐Jurado, Jesús Argente

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

    The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome mā M. Reza Sailani, Periklis Makrythanasis, Armand Valsesia, Federico Santoni, Samuel Deutsch, Konstantin Popadin, Christelle Borel, Eugenia Migliavacca, Andrew J. Sharp, Geneviève Duriaux Saïl, Emilie Falconnet, Raquel Rabionet, Clara Serra‐Juhé, Stefano Vicari, Daniéla Laux, Yann Grattau, Guy Dembour, André Mégarbané, Renaud Touraine, Samantha Stora, Sofìa Kitsiou, Helena Fryssira, Chariklia Chatzisevastou-Loukidou, Emmanouel Kanavakis, Giuseppe Merla, Damien Bonnet, Luis A. Pérez‐Jurado, Xavier Estivill, Jean Maurice Delabar, Stylianos E. Antonarakis

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    The Global State of the Genetic Counseling Profession

    The Global State of the Genetic Counseling Profession mā Mary Ann R. Abacan, Lamia Alsubaie, Kristine Barlow‐Stewart, Beppy Caanen, Christophe Cordier, Eliza Courtney, Emeline Davoine, Janice G. Edwards, Niby J. Elackatt, Kate Gardiner, Yue Guan, Lian‐Hua Huang, Charlotta Ingvoldstad Malmgren, Sahil Kejriwal, Hyon J. Kim, Deborah Lambert, Paulina Araceli Lantigua-Cruz, Juliana Mei‐Har Lee, Marianne Lodahl, Åshild Lunde, Shelley Macaulay, Ivan Macciocca, Sonia Margarit, Anna Middleton, Ramona Moldovan, Joanne Ngeow, Alexandra J. Obregón-Tito, Kelly E. Ormond, Milena Paneque, Karen Powell, Kunal Sanghavi, Diana Scotcher, Jenna Scott, Clara Serra Juhé, Shiri Shkedi‐Rafid, Tina‐Marié Wessels, Sook-Yee Yoon, Catherine Wicklund

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  9. 9
    Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

    Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome mā Bregje W.M. van Bon, Heather C. Mefford, Björn Menten, David A. Koolen, Andrew J. Sharp, Willy M. Nillesen, Jeffrey W. Innis, Thomy de Ravel, Catherine L. Mercer, Marco Fichera, Helen Stewart, Louise Connell, Katrin Õunap, Katherine Lachlan, B. Castle, Nathalie Van der Aa, Conny van Ravenswaaij, Marcelo A. Nóbrega, Clara Serra‐Juhé, Ingrid Simonic, Nicole de Leeuw, Rolph Pfundt, Ernie M.H.F. Bongers, Carl Baker, P Finnemore, Shuwen Huang, V. Maloney, John A. Crolla, M van Kalmthout, Maurizio Elia, Geert Vandeweyer, J. P. Fryns, Sandra Janssens, Nicola Foulds, S Reitano, Kath Smith, Sven Parkel, Bart Loeys, C. Geoffrey Woods, Anna Oostra, Frank Speleman, Alexandre C. Pereira, Ants Kurg, Lionel Willatt, Samantha J.L. Knight, Joris Vermeesch, Corrado Romano, John Barber, Geert Mortier, Luis Alberto Pérez‐Jurado, R. Frank Kooy, Han G. Brunner, Evan E. Eichler, Tjitske Kleefstra, Bert B.A. de Vries

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
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