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Features, genetics and their correlation in Jalili syndrome: a systematic review
Features, genetics and their correlation in Jalili syndrome: a systematic review
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Features, genetics and their correlation in Jalili syndrome: a systematic review

Daneshmandpour, Yousef ; Darvish, Hossein ; Pashazadeh, Fariba ; Emamalizadeh, Babak

Journal of medical genetics, 2019-06, Vol.56 (6), p.358-369 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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2
A novel hearing loss-related mutation occurring in the GJB2 basal promoter
A novel hearing loss-related mutation occurring in the GJB2 basal promoter
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A novel hearing loss-related mutation occurring in the GJB2 basal promoter

Matos, T D ; Caria, H ; Simões-Teixeira, H ; Aasen, T ; Nickel, R ; Jagger, D J ; O’Neill, A ; Kelsell, D P ; Fialho, G

Journal of medical genetics, 2007-11, Vol.44 (11), p.721-725 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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3
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Prasad, Megana K ; Geoffroy, Véronique ; Vicaire, Serge ; Jost, Bernard ; Dumas, Michael ; Le Gras, Stéphanie ; Switala, Marzena ; Gasse, Barbara ; Laugel-Haushalter, Virginie ; Paschaki, Marie ; Leheup, Bruno ; Droz, Dominique ; Dalstein, Amelie ; Loing, Adeline ; Grollemund, Bruno ; Muller-Bolla, Michèle ; Lopez-Cazaux, Séréna ; Minoux, Maryline ; Jung, Sophie ; Obry, Frédéric ; Vogt, Vincent ; Davideau, Jean-Luc ; Davit-Beal, Tiphaine ; Kaiser, Anne-Sophie ; Moog, Ute ; Richard, Béatrice ; Morrier, Jean-Jacques ; Duprez, Jean-Pierre ; Odent, Sylvie ; Bailleul-Forestier, Isabelle ; Rousset, Monique Marie ; Merametdijan, Laure ; Toutain, Annick ; Joseph, Clara ; Giuliano, Fabienne ; Dahlet, Jean-Christophe ; Courval, Aymeric ; El Alloussi, Mustapha ; Laouina, Samir ; Soskin, Sylvie ; Guffon, Nathalie ; Dieux, Anne ; Doray, Bérénice ; Feierabend, Stephanie ; Ginglinger, Emmanuelle ; Fournier, Benjamin ; de la Dure Molla, Muriel ; Alembik, Yves ; Tardieu, Corinne ; Clauss, François ; Berdal, Ariane ; Stoetzel, Corinne ; Manière, Marie Cécile ; Dollfus, Hélène ; Bloch-Zupan, Agnès

Journal of medical genetics, 2016-02, Vol.53 (2), p.98-110 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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4
X linked mental retardation: a clinical guide
X linked mental retardation: a clinical guide
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X linked mental retardation: a clinical guide

Raymond, F L

Journal of Medical Genetics, 2006-03, Vol.43 (3), p.193-200 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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5
SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome
SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome
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SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome

Schossig, Anna ; Bloch-Zupan, Agnès ; Lussi, Adrian ; Wolf, Nicole I ; Raskin, Salmo ; Cohen, Monika ; Giuliano, Fabienne ; Jurgens, Julie ; Krabichler, Birgit ; Koolen, David A ; de Macena Sobreira, Nara Lygia ; Maurer, Elisabeth ; Muller-Bolla, Michèle ; Penzien, Johann ; Zschocke, Johannes ; Kapferer-Seebacher, Ines

Journal of medical genetics, 2017-01, Vol.54 (1), p.54-62 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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6
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations
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Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations

Yamaguti, Paulo Marcio ; Neves, Francisco de Assis Rocha ; Hotton, Dominique ; Bardet, Claire ; de La Dure-Molla, Muriel ; Castro, Luiz Claudio ; Scher, Maria do Carmo ; Barbosa, Maristela Estevão ; Ditsch, Christophe ; Fricain, Jean-Christophe ; de La Faille, Renaud ; Figueres, Marie-Lucile ; Vargas-Poussou, Rosa ; Houiller, Pascal ; Chaussain, Catherine ; Babajko, Sylvie ; Berdal, Ariane ; Acevedo, Ana Carolina

Journal of medical genetics, 2017-01, Vol.54 (1), p.26-37 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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