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Refinado por: Base de dados/Biblioteca: HighWire Press (Free Journals) remover Nome da Publicação: Journal Of Medical Genetics remover
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1
Genetic aetiology of early infant deaths in a neonatal intensive care unit
Genetic aetiology of early infant deaths in a neonatal intensive care unit
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Genetic aetiology of early infant deaths in a neonatal intensive care unit

Yang, Lin ; Liu, Xu ; Li, Zixiu ; Zhang, Peng ; Wu, Bingbing ; Wang, Huijun ; Hu, Liyuan ; Cheng, Guoqiang ; Wang, Laishuan ; Zhou, Wenhao

Journal of medical genetics, 2020-03, Vol.57 (3), p.169-177 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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2
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
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Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Begemann, Matthias ; Rezwan, Faisal I ; Beygo, Jasmin ; Docherty, Louise E ; Kolarova, Julia ; Schroeder, Christopher ; Buiting, Karin ; Chokkalingam, Kamal ; Degenhardt, Franziska ; Wakeling, Emma L ; Kleinle, Stephanie ; González Fassrainer, Daniela ; Oehl-Jaschkowitz, Barbara ; Turner, Claire L S ; Patalan, Michal ; Gizewska, Maria ; Binder, Gerhard ; Bich Ngoc, Can Thi ; Chi Dung, Vu ; Mehta, Sarju G ; Baynam, Gareth ; Hamilton-Shield, Julian P ; Aljareh, Sara ; Lokulo-Sodipe, Oluwakemi ; Horton, Rachel ; Siebert, Reiner ; Elbracht, Miriam ; Temple, Isabel Karen ; Eggermann, Thomas ; Mackay, Deborah J G

Journal of medical genetics, 2018-07, Vol.55 (7), p.497-504 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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3
A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?
A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?
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A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

Maarse, Wies ; Rozendaal, Anna Maria ; Pajkrt, Eva ; Vermeij-Keers, Christl ; Mink van der Molen, Aebele Barber ; van den Boogaard, Marie-José Henriëtte

Journal of Medical Genetics, 2012-08, Vol.49 (8), p.490-498 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Trump, Natalie ; McTague, Amy ; Brittain, Helen ; Papandreou, Apostolos ; Meyer, Esther ; Ngoh, Adeline ; Palmer, Rodger ; Morrogh, Deborah ; Boustred, Christopher ; Hurst, Jane A ; Jenkins, Lucy ; Kurian, Manju A ; Scott, Richard H

Journal of medical genetics, 2016-05, Vol.53 (5), p.310-317 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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5
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Redin, Claire ; Gérard, Bénédicte ; Lauer, Julia ; Herenger, Yvan ; Muller, Jean ; Quartier, Angélique ; Masurel-Paulet, Alice ; Willems, Marjolaine ; Lesca, Gaétan ; El-Chehadeh, Salima ; Le Gras, Stéphanie ; Vicaire, Serge ; Philipps, Muriel ; Dumas, Michaël ; Geoffroy, Véronique ; Feger, Claire ; Haumesser, Nicolas ; Alembik, Yves ; Barth, Magalie ; Bonneau, Dominique ; Colin, Estelle ; Dollfus, Hélène ; Doray, Bérénice ; Delrue, Marie-Ange ; Drouin-Garraud, Valérie ; Flori, Elisabeth ; Fradin, Mélanie ; Francannet, Christine ; Goldenberg, Alice ; Lumbroso, Serge ; Mathieu-Dramard, Michèle ; Martin-Coignard, Dominique ; Lacombe, Didier ; Morin, Gilles ; Polge, Anne ; Sukno, Sylvie ; Thauvin-Robinet, Christel ; Thevenon, Julien ; Doco-Fenzy, Martine ; Genevieve, David ; Sarda, Pierre ; Edery, Patrick ; Isidor, Bertrand ; Jost, Bernard ; Olivier-Faivre, Laurence ; Mandel, Jean-Louis ; Piton, Amélie

Journal of medical genetics, 2014-11, Vol.51 (11), p.724-736 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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6
Retrospective natural history of thymidine kinase 2 deficiency
Retrospective natural history of thymidine kinase 2 deficiency
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Retrospective natural history of thymidine kinase 2 deficiency

Garone, Caterina ; Taylor, Robert W ; Nascimento, Andrés ; Poulton, Joanna ; Fratter, Carl ; Domínguez-González, Cristina ; Evans, Julie C ; Loos, Mariana ; Isohanni, Pirjo ; Suomalainen, Anu ; Ram, Dipak ; Hughes, M Imelda ; McFarland, Robert ; Barca, Emanuele ; Lopez Gomez, Carlos ; Jayawant, Sandeep ; Thomas, Neil D ; Manzur, Adnan Y ; Kleinsteuber, Karin ; Martin, Miguel A ; Kerr, Timothy ; Gorman, Grainne S ; Sommerville, Ewen W ; Chinnery, Patrick F ; Hofer, Monika ; Karch, Christoph ; Ralph, Jeffrey ; Cámara, Yolanda ; Madruga-Garrido, Marcos ; Domínguez-Carral, Jana ; Ortez, Carlos ; Emperador, Sonia ; Montoya, Julio ; Chakrapani, Anupam ; Kriger, Joshua F ; Schoenaker, Robert ; Levin, Bruce ; Thompson, John L P ; Long, Yuelin ; Rahman, Shamima ; Donati, Maria Alice ; DiMauro, Salvatore ; Hirano, Michio

Journal of medical genetics, 2018-08, Vol.55 (8), p.515-521 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
Juvenile myelomonocytic leukaemia and Noonan syndrome
Juvenile myelomonocytic leukaemia and Noonan syndrome
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Juvenile myelomonocytic leukaemia and Noonan syndrome

Strullu, Marion ; Caye, Aurélie ; Lachenaud, Julie ; Cassinat, Bruno ; Gazal, Steven ; Fenneteau, Odile ; Pouvreau, Nathalie ; Pereira, Sabrina ; Baumann, Clarisse ; Contet, Audrey ; Sirvent, Nicolas ; Méchinaud, Françoise ; Guellec, Isabelle ; Adjaoud, Dalila ; Paillard, Catherine ; Alberti, Corinne ; Zenker, Martin ; Chomienne, Christine ; Bertrand, Yves ; Baruchel, André ; Verloes, Alain ; Cavé, Hélène

Journal of medical genetics, 2014-10, Vol.51 (10), p.689-697 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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8
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
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Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

Mirabello, Lisa ; Khincha, Payal P ; Ellis, Steven R ; Giri, Neelam ; Brodie, Seth ; Chandrasekharappa, Settara C ; Donovan, Frank X ; Zhou, Weiyin ; Hicks, Belynda D ; Boland, Joseph F ; Yeager, Meredith ; Jones, Kristine ; Zhu, Bin ; Wang, Mingyi ; Alter, Blanche P ; Savage, Sharon A

Journal of medical genetics, 2017-06, Vol.54 (6), p.417-425 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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9
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

Ferner, Rosalie E ; Huson, Susan M ; Thomas, Nick ; Moss, Celia ; Willshaw, Harry ; Evans, D Gareth ; Upadhyaya, Meena ; Towers, Richard ; Gleeson, Michael ; Steiger, Christine ; Kirby, Amanda

Journal of Medical Genetics, 2007-02, Vol.44 (2), p.81-88 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis
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Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis

Kammermeier, Jochen ; Drury, Suzanne ; James, Chela T ; Dziubak, Robert ; Ocaka, Louise ; Elawad, Mamoun ; Beales, Philip ; Lench, Nicholas ; Uhlig, Holm H ; Bacchelli, Chiara ; Shah, Neil

Journal of medical genetics, 2014-11, Vol.51 (11), p.748-755 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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