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American journal of medical genetics; Part A (2003)

New York, NY : Wiley-Liss ; 116A.2003 - 152A.2010; 155.2011 -

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UID:

gbv_302930361

Format: Online-Ressource

ISSN: 1552-4833

Note: Gesehen am 25.02.20

Additional Edition: ISSN 1552-4825

Additional Edition: Erscheint auch als Druck-Ausgabe American journal of medical genetics / A Hoboken, NJ : Wiley-Liss, 2003 ISSN 1552-4825

Former: Vorg American journal of medical genetics

Language: English

Keywords: Humangenetik ; Erbkrankheit ; Angeborene Krankheit ; Zeitschrift

DOI: 10.1002/(ISSN)1552-4833

URL: https://doi.org/10.1002/(ISSN)1552-4833

URL: https://ezb.ur.de/?1493479-6

URL: https://onlinelibrary.wiley.com/journal/15524833

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Stabi Berlin

UB Potsdam

MPI Bildungsforschung

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A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability (2019)

Karoglan, Ante [VerfasserIn] 1988- ; Schanze, Denny [VerfasserIn] 1979- ; Bär, Claudia [VerfasserIn] ; [et al.]

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UID:

gbv_1678838810

ISSN: 1552-4833

In: American journal of medical genetics / A, New York, NY : Wiley-Liss, 2003, 179(2019), 5, Seite 832-836, 1552-4833

In: volume:179

In: year:2019

In: number:5

In: pages:832-836

Language: English

DOI: 10.1002/ajmg.a.61093

URL: http://dx.doi.org/10.1002/ajmg.a.61093

Author information: Schanze, Denny 1979-

Author information: Karoglan, Ante 1988-

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A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome (2014)

Wieland, Ilse ; Schanze, Denny ; Schanze, Ina ; [et al.]

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UID:

gbv_812706943

ISSN: 1552-4833

In: American journal of medical genetics / A, New York, NY : Wiley-Liss, 2003, 164(2014), 12, Seite 3213-3214, 1552-4833

In: volume:164

In: year:2014

In: number:12

In: pages:3213-3214

Language: English

DOI: 10.1002/ajmg.a.36765

URL: Volltext

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A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family/ Kirsten M. Sanggaard ; Klaus W. Kjaer ; Hans Eiberg ; Gudrun Nürnberg ; Peter Nürnberg ; Katrin Hoffmann ; Hanne Jensen ; Charlotte Sørum ; Nanna D. Rendtorff and Lisbeth Tranebjærg (2008)

Sanggaard, Kirsten M. ; Kjaer, Klaus W. ; Eiberg, Hans ; [et al.]

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UID:

gbv_792476476

ISSN: 1552-4833

Content: nonsyndromic hearing loss,genome linkage,MYO6,unconventional myosins

In: American journal of medical genetics / A, New York, NY : Wiley-Liss, 2003, Bd. 146A.2008, 8, S. 1017-25, 1552-4833

In: volume:146

In: year:2008

In: number:8

In: pages:1017-25

Language: English

DOI: 10.1002/ajmg.a.32174

URL: Volltext

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ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair : the co‐occurrence of two rare syndromes (2019)

Akgun-Dogan, Ozlem [VerfasserIn] ; Simsek-Kiper, Pelin O. [VerfasserIn] ; Taskiran, Ekim [VerfasserIn] ; [et al.]

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UID:

gbv_1684923409

ISSN: 1552-4833

In: American journal of medical genetics / A, New York, NY : Wiley-Liss, 2003, 179(2019), 12, Seite 2474-2480, 1552-4833

In: volume:179

In: year:2019

In: number:12

In: pages:2474-2480

Language: English

DOI: 10.1002/ajmg.a.61363

URL: http://dx.doi.org/10.1002/ajmg.a.61363

Author information: Schanze, Denny 1979-

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Ablepharon macrostomia syndrome : a distinct genetic entity clinically related to the group of FRAS-FREM complex disorders (2013)

Schanze, Denny ; Harakalova, Magdalena ; Stevens, Cathy A. ; [et al.]

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UID:

gbv_774778830

ISSN: 1552-4833

In: American journal of medical genetics / A, New York, NY : Wiley-Liss, 2003, 161(2013), 12, Seite 3012-3017, 1552-4833

In: volume:161

In: year:2013

In: number:12

In: pages:3012-3017

Language: English

DOI: 10.1002/ajmg.a.36119

URL: Volltext

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Adams-Oliver syndrome caused by mutations of the EOGT gene (2019)

Schröder, Kim C. [VerfasserIn] ; Duman, Duygu [VerfasserIn] ; Tekin, Mustafa [VerfasserIn] ; [et al.]

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UID:

gbv_1684937892

ISSN: 1552-4833

In: American journal of medical genetics / A, New York, NY : Wiley-Liss, 2003, 179(2019), 11, Seite 2246-2251, 1552-4833

In: volume:179

In: year:2019

In: number:11

In: pages:2246-2251

Language: English

DOI: 10.1002/ajmg.a.61313

URL: http://dx.doi.org/10.1002/ajmg.a.61313

Author information: Schanze, Denny 1979-

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Aplasia cutis congenita in a CDC42-related developmental phenotype (2021)

Schnabel, Franziska [VerfasserIn] ; Kamphausen, Susanne Barbara [VerfasserIn] ; Funke, Johann Paul Rudolf [VerfasserIn] 1961- ; [et al.]

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UID:

gbv_1771708042

ISSN: 1552-4833

In: American journal of medical genetics / A, New York, NY : Wiley-Liss, 2003, 185(2021), 3, Seite 850-855, 1552-4833

In: volume:185

In: year:2021

In: number:3

In: pages:850-855

Language: English

DOI: 10.1002/ajmg.a.62009

URL: http://dx.doi.org/10.1002/ajmg.a.62009

Author information: Kamphausen, Susanne Barbara

Author information: Kaulfuß, Silke 1979-

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Association of migraine-like headaches with Schimke immuno-osseous dysplasia (2005)

Kilic, Sara Sebnem ; Donmez, Osman ; Sloan, Emily A. ; [et al.]

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UID:

gbv_512486700

ISSN: 1552-4833

Content: migraine headache skeletal dysplasia renal failure immunodeficiency

In: American journal of medical genetics / A, New York, NY : Wiley-Liss, 2003, 135(2005), 2, Seite 206-210, 1552-4833

In: volume:135

In: year:2005

In: number:2

In: pages:206-210

Language: English

DOI: 10.1002/ajmg.a.30692

URL: Volltext

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Childhood cancer predisposition syndromes : a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology (2017)

Ripperger, Tim [VerfasserIn] 1977- ; Bielack, Stefan S. [VerfasserIn] ; Borkhardt, Arndt [VerfasserIn] 1963- ; [et al.]

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UID:

gbv_887560776

ISSN: 1552-4833

In: American journal of medical genetics / A, New York, NY : Wiley-Liss, 2003, 173(2017), 4, Seite 1017-1037, 1552-4833

In: volume:173

In: year:2017

In: number:4

In: pages:1017-1037

Language: English

DOI: 10.1002/ajmg.a.38142

URL: Volltext

Author information: Niemeyer, Charlotte 1954-

Author information: Witt, Olaf 1965-

Author information: Horstmann, Martin

Author information: Russo, Alexandra 1968-

Author information: Schweinitz, Dietrich von 1954-

Author information: Metzler, Markus 1971-

Author information: Ripperger, Tim 1977-

Author information: Deubzer, Hedwig 1975-

Author information: Erlacher, Miriam 1978-

Author information: Meyer, Lüder Hinrich 1968-

Author information: Nathrath, Michaela

Author information: Schneider, Dominik T. 1966-

Author information: Kordes, Uwe

Author information: Temming, Petra 1976-

Author information: Rieß, Olaf 1959-

Author information: Dirksen, Uta

Author information: Eggert, Angelika 1967-

Author information: Schneppenheim, Reinhard 1950-

Author information: Rasche, Mareike 1986-

Author information: Pfister, Stefan 1974-

Author information: Kulozik, Andreas 1959-

Author information: Schlegelberger, Brigitte 1956-

Author information: Göhring, Gudrun 1974-

Author information: Schrappe, Martin 1958-

Author information: Eckert, Cornelia 1971-

Author information: Hettmer, Simone 1973-

Author information: Graf, Norbert 1956-

Author information: Klingebiel, Thomas

Author information: Kratz, Christian Peter 1968-

Author information: Kontny, Udo

Author information: Stanulla, Martin 1965-

Author information: Debatin, Klaus-Michael 1952-

Author information: Kuhlen, Michaela 1975-

Author information: Kerl, Kornelius Tobias 1979-

Author information: Steinemann, Doris 1963-

Author information: Vorwerk, Peter 1963-

Author information: Kaatsch, Peter 1954-

Author information: Borkhardt, Arndt 1963-

Author information: Strahm, Brigitte

Author information: Illig, Thomas

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Kooperativer Bibliotheksverbund

Berlin Brandenburg