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Human mutation (1992)

London : Hindawi Limited | New York, NY [u.a.] : Wiley-Liss ; 1.1992 -

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UID:

gbv_306586193

Format: Online-Ressource

ISSN: 1098-1004

Note: Gesehen am 28.03.23

Additional Edition: ISSN 1059-7794

Additional Edition: Erscheint auch als Druck-Ausgabe Human mutation Hoboken, NJ : Wiley-Blackwell, 1992 ISSN 1059-7794

Language: English

Keywords: Erbkrankheit ; Genmutation ; Zeitschrift ; Online-Ressource ; Zeitschrift

DOI: 10.1002/(ISSN)1098-1004

URL: https://doi.org/10.1002/(ISSN)1098-1004

URL: https://onlinelibrary.wiley.com/journal/10981004

URL: Deutschlandweit zugänglich

URL: https://onlinelibrary.wiley.com/journal/10981004

URL: kostenfrei

URL: https://ezb.ur.de/?1498165-8

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Stabi Berlin

UB Potsdam

MPI Bildungsforschung

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ANO5 gene analysis in a large cohort of patients with anoctaminopathy : confirmation of male prevalence and high occurrence of the common exon 5 gene mutation (2013)

Sarkozy, Anna [VerfasserIn] ; Hicks, Debbie [VerfasserIn] ; Laval, Steve H. [VerfasserIn] ; [et al.]

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UID:

gbv_856913618

ISSN: 1098-1004

Content: ANO5, LGMD2L, gender, muscular dystrophy

In: Human mutation, London : Hindawi Limited, 1992, 34(2013), 8, Seite 1111-1118, 1098-1004

In: volume:34

In: year:2013

In: number:8

In: pages:1111-1118

Language: English

DOI: 10.1002/humu.22342

URL: Volltext

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Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome (2015)

Cordeddu, Viviana ; Yin, Jiani C. ; Gunnarsson, Cecilia ; [et al.]

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UID:

gbv_839464169

ISSN: 1098-1004

In: Human mutation, London : Hindawi Limited, 1992, 36(2015), 11, Seite 1080-1087, 1098-1004

In: volume:36

In: year:2015

In: number:11

In: pages:1080-1087

Language: English

DOI: 10.1002/humu.22834

URL: Volltext

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Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila (2014)

Gregor, Anne ; Kramer, Jamie M. ; Voet, Monique van der ; [et al.]

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UID:

gbv_812708709

ISSN: 1098-1004

In: Human mutation, London : Hindawi Limited, 1992, 35(2014), 12, Seite 1495-1505, 1098-1004

In: volume:35

In: year:2014

In: number:12

In: pages:1495-1505

Language: English

DOI: 10.1002/humu.22697

URL: Volltext

Author information: Reis, André 1960-

Author information: Uebe, Steffen

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Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework (2018)

Grant, Andrew R. [VerfasserIn] ; Cushman, Brandon J. [VerfasserIn] ; Cavé, Hélène [VerfasserIn] ; [et al.]

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UID:

gbv_1040638139

ISSN: 1098-1004

In: Human mutation, London : Hindawi Limited, 1992, 39(2018), 11, Seite 1485-1493, 1098-1004

In: volume:39

In: year:2018

In: number:11

In: pages:1485-1493

Language: English

DOI: 10.1002/humu.23624

URL: Volltext

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DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies (2015)

Sukalo, Maja ; Tilsen, Felix ; Kayserili, Hülya ; [et al.]

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UID:

gbv_836445775

ISSN: 1098-1004

In: Human mutation, London : Hindawi Limited, 1992, 36(2015), 6, Seite 593-598, 1098-1004

In: volume:36

In: year:2015

In: number:6

In: pages:593-598

Language: English

DOI: 10.1002/humu.22795

URL: Volltext

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Deletions in the 3' part of the NFIX gene including a recurrent alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome (2014)

Schanze, Denny ; Neubauer, Dorothée ; Cormier-Daire, Valerie ; [et al.]

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UID:

gbv_798412607

ISSN: 1098-1004

In: Human mutation, London : Hindawi Limited, 1992, 35(2014), 9, Seite 1092-1100, 1098-1004

In: volume:35

In: year:2014

In: number:9

In: pages:1092-1100

Language: English

DOI: 10.1002/humu.22603

URL: Volltext

Author information: Reis, André 1960-

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Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patients (2006)

Goldberg, Martina ; Rummelt, C. ; Foja, Sabine ; [et al.]

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UID:

gbv_513437991

ISSN: 1098-1004

Content: fragile histidine triad gene; mismatch repair; Muir-Torre syndrome;promoter methylation; sebaceous gland carcinoma

In: Human mutation, London : Hindawi Limited, 1992, 27(2006), 2, Seite 155-162, 1098-1004

In: volume:27

In: year:2006

In: number:2

In: pages:155-162

Language: English

DOI: 10.1002/humu.20281

URL: Volltext

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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort (2018)

Meester, Josephina A. N. [VerfasserIn] ; Sukalo, Maja [VerfasserIn] ; Schröder, Kim C. [VerfasserIn] ; [et al.]

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UID:

gbv_1031029737

ISSN: 1098-1004

In: Human mutation, London : Hindawi Limited, 1992, 39(2018), 9, Seite 1246-1261, 1098-1004

In: volume:39

In: year:2018

In: number:9

In: pages:1246-1261

Language: English

DOI: 10.1002/humu.23567

URL: Volltext

Author information: Schanze, Denny 1979-

Author information: Brämswig, Nuria 1983-

Author information: Itin, Peter

Author information: Roll, Claudia 1970-

Author information: Nelle, Heike Maria 1980-

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Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations (2006)

Borozdin, Wiktor ; Bravo Ferrer Acosta, Ana M. ; Bamshad, Michael J. ; [et al.]

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UID:

gbv_543493636

ISSN: 1098-1004

Content: TBX5 Holt-Oram syndrome

In: Human mutation, London : Hindawi Limited, 1992, 27(2006), 9, Seite 975-976, 1098-1004

In: volume:27

In: year:2006

In: number:9

In: pages:975-976

Language: English

DOI: 10.1002/humu.9449

URL: Volltext

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