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The American journal of human genetics (1949)

American Society of Human Genetics

New York, NY [u.a.] : Cell Press | New York, NY : Elsevier | Chicago, Ill. : Univ. of Chicago Press ; 1.1949 -

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UID:

gbv_269019014

ISSN: 1537-6605

Note: Gesehen am 28.05.2020

Additional Edition: ISSN 0002-9297

Additional Edition: Erscheint auch als Druck-Ausgabe American journal of human genetics New York, NY [u.a.] : Cell Press, 1949 ISSN 0002-9297

Language: English

Keywords: Humangenetik ; Mensch ; Vererbung ; Genetik ; Anthropologie ; Physiologie ; Medizin ; Zeitschrift

URL: teilw. kostenfrei

URL: https://www.cell.com/ajhg

URL: teilw. kostenfrei

URL: https://ezb.ur.de/?1473813-2

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UB Potsdam

MPI Bildungsforschung

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Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders (2008)

Michalk, Anne ; Stricker, Sigmar ; Becker, Jutta ; [et al.]

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UID:

gbv_791787575

ISSN: 1537-6605

In: The American journal of human genetics, New York, NY [u.a.] : Cell Press, 1949, 82(2008), 2, Seite 464-76, 1537-6605

In: volume:82

In: year:2008

In: number:2

In: pages:464-76

Language: English

DOI: 10.1016/j.ajhg.2007.11.006

URL: Volltext

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Activating mutations of RRAS2 are a rare cause of Noonan syndrome (2019)

Capri, Yline [VerfasserIn] ; Flex, Elisabetta [VerfasserIn] ; Krumbach, Oliver H. F. [VerfasserIn] ; [et al.]

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UID:

gbv_1678914509

ISSN: 1537-6605

In: The American journal of human genetics, New York, NY [u.a.] : Cell Press, 1949, 104(2019), 6, Seite 1223-1232, 1537-6605

In: volume:104

In: year:2019

In: number:6

In: pages:1223-1232

Language: English

DOI: 10.1016/j.ajhg.2019.04.013

URL: http://dx.doi.org/10.1016/j.ajhg.2019.04.013

Author information: Schanze, Denny 1979-

Author information: Brämswig, Nuria 1983-

Author information: Kensah, George 1976-

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Autosomal-recessive mutations in MESD cause osteogenesis imperfecta (2019)

Moosa, Shahida [VerfasserIn] ; Yamamoto, Guilherme L. [VerfasserIn] ; Garbes, Lutz [VerfasserIn] 1980- ; [et al.]

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UID:

gbv_1684954096

ISSN: 1537-6605

In: The American journal of human genetics, New York, NY [u.a.] : Cell Press, 1949, 105(2019), 4, Seite 836-843, 1537-6605

In: volume:105

In: year:2019

In: number:4

In: pages:836-843

Language: English

DOI: 10.1016/j.ajhg.2019.08.008

URL: http://dx.doi.org/10.1016/j.ajhg.2019.08.008

Author information: Moosa, Shahida

Author information: Lausch, Ekkehart 1964-

Author information: Villavicencio Lorini, Pablo 1975-

Author information: Semler, Jörg Oliver 1974-

Author information: Keupp, Katharina 1985-

Author information: Beleggia, Filippo 1983-

Author information: Altmüller, Janine 1970-

Author information: Yigit, Gökhan 1979-

Author information: Zabel, Bernhard 1948-

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Biallelic mutations of VAC14 in pediatric-onset neurological disease (2016)

Lenk, Guy M. [VerfasserIn] ; Szymanska, Krystyna [VerfasserIn] ; Debska-Vielhaber, Grazyna [VerfasserIn] ; [et al.]

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UID:

gbv_864398727

ISSN: 1537-6605

In: The American journal of human genetics, New York, NY [u.a.] : Cell Press, 1949, 99(2016), 1, Seite 188-194, 1537-6605

In: volume:99

In: year:2016

In: number:1

In: pages:188-194

Language: English

DOI: 10.1016/j.ajhg.2016.05.008

URL: Volltext

Author information: Vielhaber, Stefan 1965-

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Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum (2020)

Motta, Marialetizia [VerfasserIn] ; Pannone, Luca [VerfasserIn] ; Pantaleoni, Francesca [VerfasserIn] ; [et al.]

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UID:

gbv_1734491124

ISSN: 1537-6605

In: The American journal of human genetics, New York, NY [u.a.] : Cell Press, 1949, 107(2020), 3, Seite 499-513, 1537-6605

In: volume:107

In: year:2020

In: number:3

In: pages:499-513

Language: English

DOI: 10.1016/j.ajhg.2020.06.018

URL: lizenzpflichtig

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Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects (2011)

Baasanjav, Sevjidmaa ; Al-Gazali, Lihadh ; Hashiguchi, Taishi ; [et al.]

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UID:

gbv_79137775X

ISSN: 1537-6605

In: The American journal of human genetics, New York, NY [u.a.] : Cell Press, 1949, 89(2011), 1, Seite 15-27, 1537-6605

In: volume:89

In: year:2011

In: number:1

In: pages:15-27

Language: English

DOI: 10.1016/j.ajhg.2011.05.021

URL: Volltext

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Functional dysregulation of CDC42 causes diverse developmental phenotypes (2018)

Martinelli, Simone [VerfasserIn] ; Krumbach, Oliver H. F. [VerfasserIn] ; Pantaleoni, Francesca [VerfasserIn] ; [et al.]

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UID:

gbv_1031158715

ISSN: 1537-6605

In: The American journal of human genetics, New York, NY [u.a.] : Cell Press, 1949, 102(2018), 2, Seite 309-320, 1537-6605

In: volume:102

In: year:2018

In: number:2

In: pages:309-320

Language: English

DOI: 10.1016/j.ajhg.2017.12.015

URL: Volltext

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism (2021)

Chopra, Maya [VerfasserIn] ; McEntagart, Meriel [VerfasserIn] ; Clayton-Smith, Jill [VerfasserIn] ; [et al.]

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UID:

gbv_1771309881

ISSN: 1537-6605

In: The American journal of human genetics, New York, NY [u.a.] : Cell Press, 1949, 108(2021), 6, Seite 1138-1150, 1537-6605

In: volume:108

In: year:2021

In: number:6

In: pages:1138-1150

Language: English

DOI: 10.1016/j.ajhg.2021.04.007

URL: lizenzpflichtig

Author information: Mancini, Grazia Maria Simonetta

Author information: Abou Jamra, Rami 1977-

Author information: Helbig, Ingo 1977-

Author information: Kamphausen, Susanne Barbara

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Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome (2015)

Meester, Josephina A.N. ; Southgate, Laura ; Stittrich, Anna-Barbara 1980- ; [et al.]

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UID:

gbv_836334558

ISSN: 1537-6605

In: The American journal of human genetics, New York, NY [u.a.] : Cell Press, 1949, 97(2015), 3, Seite 475-482, 1537-6605

In: volume:97

In: year:2015

In: number:3

In: pages:475-482

Language: English

DOI: 10.1016/j.ajhg.2015.07.015

URL: https://www.sciencedirect.com/science/article/pii/S0002929715002918

Author information: Stittrich, Anna-Barbara 1980-

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