Хайлтын үр дүнгүүд - Celia Zazo Seco

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  1. 1
    Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

    Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia -н Julie Plaisancié, Fabiola Ceroni, Richard Holt, Celia Zazo Seco, Patrick Calvas, Nicolas Chassaing, Nicola Ragge

    Хэвлэсэн 2019
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    Revisão
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  2. 2
    Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

    Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families -н Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M. Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir Abbas Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar

    Хэвлэсэн 2014
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    Artigo
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  3. 3
    Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

    Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 -н Celia Zazo Seco, Anne M.M. Oonk, María Domínguez-Ruiz, Jos Draaisma, Marta Gandía, Jaap Oostrik, Kornelia Neveling, Henricus P. M. Kunst, Lies H. Hoefsloot, Ignacio del Castillo, Ronald J. E. Pennings, Hannie Kremer, R.J.C. Admiraal, Margit Schraders

    Хэвлэсэн 2014
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    Artigo
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  4. 4
    A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

    A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment -н Isabelle Schrauwen, Sarah Helfmann, Akira Inagaki, Friederike Predoehl, Mohammad Amin Tabatabaiefar, Maria Magdalena Picher, Manou Sommen, Celia Zazo Seco, Jaap Oostrik, Hannie Kremer, Annelies Dheedene, Charlotte Claes, Erik Fransén, Morteza Hashemzadeh Chaleshtori, Paul Coucke, Amy Lee, Tobias Moser, Guy Van Camp

    Хэвлэсэн 2012
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    Artigo
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  5. 5
    Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

    Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment -н Margit Schraders, Laura Ruiz-Palmero, Ersan Kalay, Jaap Oostrik, Francisco Castillo, Orhan Sezgın, Andy J. Beynon, Tim M. Strom, Ronald J. E. Pennings, Celia Zazo Seco, Anne M.M. Oonk, Henricus P. M. Kunst, María Domínguez-Ruiz, Ana María García-Arumí, Miguel Del Campo, Manuela Villamar, Lies H. Hoefsloot, Felipe Moreno, R.J.C. Admiraal, Ignacio del Castillo, Hannie Kremer

    Хэвлэсэн 2012
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    Artigo
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  6. 6
    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes -н Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylène Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine A. Bax, Petra Zwijnenburg, Ana Arteche‐López, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William D. Newman, Carmen Ayuso, Marta Cortón, Yvan Herenger, Médéric Jeanne, Patrick Calvas, Nicolas Chassaing

    Хэвлэсэн 2018
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    Artigo
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  7. 7
    Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

    Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss -н Kemal O. Yariz, Duygu Duman, Celia Zazo Seco, Julia E. Dallman, Mingqian Huang, Theo Peters, Aslı Sırmacı, Na Lü, Margit Schraders, Isaac Skromne, Jaap Oostrik, Oscar Diaz‐Horta, Juan I. Young, Suna Tokgöz-Yılmaz, Özlem Konukseven, Hashem Shahin, Lisette Hetterschijt, Moien Kanaan, Anne M.M. Oonk, Yvonne J. K. Edwards, Huawei Li, Semra Atalay, Susan H. Blanton, Alexandra A. DeSmidt, Xue-Zhong Liu, Ronald J. E. Pennings, Zhongmin Lu, Zheng‐Yi Chen, Hannie Kremer, Mustafa Tekin

    Хэвлэсэн 2012
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    Artigo
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  8. 8
    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies -н Richard Holt, Rodrigo Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, Andrea Ciolfi, Marleen Simon, Christina Fagerberg, Ellen van Binsbergen, Alessandro De Luca, Luigi Memo, William B. Dobyns, Alaa Afif Mohammed, Samuel Clokie, Celia Zazo Seco, Yong-hui Jiang, Kristina P. Sørensen, Helle Andersen, Jennifer A. Sullivan, Zöe Powis, Anna Chassevent, Constance Smith‐Hicks, Slavé Petrovski, Thalia Antoniadi, Vandana Shashi, Bruce D. Gelb, Stephen W. Wilson, Dianne Gerrelli, Marco Tartaglia, Nicolas Chassaing, Patrick Calvas, Nicola Ragge

    Хэвлэсэн 2019
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    Artigo
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  9. 9
    Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

    Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 -н Celia Zazo Seco, Luciana Serrão de Castro, Josephine W. van Nierop, Matías Morin, Shalini N. Jhangiani, Eva J. J. Verver, Margit Schraders, Nadine Maiwald, Mieke Wesdorp, Hanka Venselaar, Liesbeth Spruijt, Jaap Oostrik, Jeroen Schoots, Jeroen van Reeuwijk, Stefan H. Lelieveld, P.L.M. Huygen, María Insenser, R.J.C. Admiraal, Ronald J. E. Pennings, Lies H. Hoefsloot, Alejandro Arias Vásquez, Joep de Ligt, Helger G. Yntema, Joop H. Jansen, Donna M. Muzny, Gerwin Huls, Michelle M. van Rossum, James R. Lupski, Miguel A. Moreno‐Pelayo, Henricus P. M. Kunst, Hannie Kremer

    Хэвлэсэн 2015
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    Artigo
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  10. 10
    The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

    The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands -н Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y. Hehir‐Kwa, Stefan H. Lelieveld, Steven Castelein, Christian Gilissen, Ilse J. de Wijs, R.J.C. Admiraal, Ronald J. E. Pennings, Henricus P. M. Kunst, Jiddeke M. van de Kamp, Saskia Tamminga, Arjan C. Houweling, Astrid S. Plomp, Saskia M. Maas, Pia AM de Koning Gans, Sarina G. Kant, Christa M. de Geus, Suzanna G.M. Frints, Els K. Vanhoutte, Marieke F. van Dooren, Marie- José H van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies H. Hoefsloot, Margit Schraders, Helger G. Yntema

    Хэвлэсэн 2016
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    Artigo
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