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Refinado por: Nome da Publicação: European Journal Of Human Genetics : Ejhg remover
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1
1 in 38 individuals at risk of a dominant medically actionable disease
1 in 38 individuals at risk of a dominant medically actionable disease
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1 in 38 individuals at risk of a dominant medically actionable disease

Haer-Wigman, Lonneke ; van der Schoot, Vyne ; Feenstra, Ilse ; Vulto-van Silfhout, Anneke T ; Gilissen, Christian ; Brunner, Han G ; Vissers, Lisenka E L M ; Yntema, Helger G

European journal of human genetics : EJHG, 2019-02, Vol.27 (2), p.325-330 [Periódico revisado por pares]

England: Nature Publishing Group

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2
1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
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1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

LOWER, Karen M ; SOLDERS, Göran ; GECZ, Jozef ; BONDESON, Marie-Louise ; NELSON, John ; BRUN, Arne ; CRAWFORD, Joanna ; MALM, Gunilla ; BÖRJESON, Mats ; TURNER, Gillian ; PARTINGTON, Michael

European journal of human genetics : EJHG, 2004-10, Vol.12 (10), p.787-789 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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3
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech
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12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Thevenon, Julien ; Callier, Patrick ; Andrieux, Joris ; Delobel, Bruno ; David, Albert ; Sukno, Sylvie ; Minot, Delphine ; Mosca Anne, Laure ; Marle, Nathalie ; Sanlaville, Damien ; Bonnet, Marlène ; Masurel-Paulet, Alice ; Levy, Fabienne ; Gaunt, Lorraine ; Farrell, Sandra ; Le Caignec, Cédric ; Toutain, Annick ; Carmignac, Virginie ; Mugneret, Francine ; Clayton-Smith, Jill ; Thauvin-Robinet, Christel ; Faivre, Laurence

European journal of human genetics : EJHG, 2013-01, Vol.21 (1), p.82-88 [Periódico revisado por pares]

England: Nature Publishing Group

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4
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype
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14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Ellaway, Carolyn J ; Ho, Gladys ; Bettella, Elisa ; Knapman, Alisa ; Collins, Felicity ; Hackett, Anna ; McKenzie, Fiona ; Darmanian, Artur ; Peters, Gregory B ; Fagan, Kerry ; Christodoulou, John

European journal of human genetics : EJHG, 2013-05, Vol.21 (5), p.522-527 [Periódico revisado por pares]

England: Nature Publishing Group

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5
16p subtelomeric duplication: a clinically recognizable syndrome
16p subtelomeric duplication: a clinically recognizable syndrome
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16p subtelomeric duplication: a clinically recognizable syndrome

CRISTINA DIGILIO, Maria ; BERNARDINI, Laura ; CAPALBO, Anna ; CAPOLINO, Rossella ; GIULIA GAGLIARDI, Maria ; MARINO, Bruno ; NOVELLI, Antonio ; DALLAPICCOLA, Bruno

European journal of human genetics : EJHG, 2009-09, Vol.17 (9), p.1135-1140 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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6
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
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16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Barber, John C K ; Hall, Victoria ; Maloney, Viv K ; Huang, Shuwen ; Roberts, Angharad M ; Brady, Angela F ; Foulds, Nicki ; Bewes, Beverley ; Volleth, Marianne ; Liehr, Thomas ; Mehnert, Karl ; Bateman, Mark ; White, Helen

European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.182-189 [Periódico revisado por pares]

England: Nature Publishing Group

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7
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing
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16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

Nicolle, Romain ; Siquier-Pernet, Karine ; Rio, Marlène ; Guimier, Anne ; Ollivier, Emmanuelle ; Nitschke, Patrick ; Bole-Feysot, Christine ; Romana, Serge ; Hastie, Alex ; Cantagrel, Vincent ; Malan, Valérie

European journal of human genetics : EJHG, 2022-06, Vol.30 (6), p.712-720 [Periódico revisado por pares]

England: Nature Publishing Group

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8
17p13.3 microduplications are associated with split-hand foot malformation and long-bone deficiency (SHFLD)
17p13.3 microduplications are associated with split-hand foot malformation and long-bone deficiency (SHFLD)
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17p13.3 microduplications are associated with split-hand foot malformation and long-bone deficiency (SHFLD)

ARMOUR, Christine M ; BULMAN, Dennis E ; BOYCOTT, Kym M ; EVERMAN, David B ; GRAHAM, Gail E ; JARINOVA, Olga ; ROGERS, Richard Curtis ; CLARKSON, Kate B ; DUPONT, Barbara R ; DWIVEDI, Alka ; BARTEL, Frank O ; MCDONELL, Laura ; SCHWARTZ, Charles E

European journal of human genetics : EJHG, 2011-11, Vol.19 (11), p.1144-1151 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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9
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
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17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

VERGULT, Sarah ; DAUBER, Andrew ; MOHAMMED, Shehla ; OGILVIE, Caroline ; CROLLA, John ; MORTIER, Geert ; MENTEN, Bjorn ; DELLE CHIAIE, Barbara ; VAN OUDENHOVE, Elke ; SIMON, Marleen ; RIHANI, Ali ; LOEYS, Bart ; HIRSCHHORN, Joel ; PFOTENHAUER, Jean ; PHILLIPS, John A

European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.534-539 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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10
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
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20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Piton, Amélie ; Poquet, Hélène ; Redin, Claire ; Masurel, Alice ; Lauer, Julia ; Muller, Jean ; Thevenon, Julien ; Herenger, Yvan ; Chancenotte, Sophie ; Bonnet, Marlène ; Pinoit, Jean-Michel ; Huet, Frédéric ; Thauvin-Robinet, Christel ; Jaeger, Anne-Sophie ; Le Gras, Stéphanie ; Jost, Bernard ; Gérard, Bénédicte ; Peoc'h, Katell ; Launay, Jean-Marie ; Faivre, Laurence ; Mandel, Jean-Louis

European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.776-783 [Periódico revisado por pares]

England: Nature Publishing Group

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