KOBV Portal

1

Online Resource

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Lebo, Matthew S. ; Zakoor, Kathleen-Rose ; Chun, Kathy ; [et al.]

Elsevier BV ; 2018

In: Genetics in Medicine Vol. 20, No. 3 ( 2018-03), p. 294-302

add to watchlist on the watchlist

Details

In: Genetics in Medicine, Elsevier BV, Vol. 20, No. 3 ( 2018-03), p. 294-302

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/gim.2017.80

Language: English

Publisher: Elsevier BV

Publication Date: 2018

detail.hit.zdb_id: 2063504-7

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

2

Online Resource

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Shashi, Vandana ; Schoch, Kelly ; Ganetzky, Rebecca ; [et al.]

Elsevier BV ; 2023

In: Genetics in Medicine Vol. 25, No. 9 ( 2023-09), p. 100897-

add to watchlist on the watchlist

Details

In: Genetics in Medicine, Elsevier BV, Vol. 25, No. 9 ( 2023-09), p. 100897-

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1016/j.gim.2023.100897

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 2063504-7

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

3

Online Resource

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Brownstein, Catherine A ; Beggs, Alan H ; Homer, Nils ; [et al.]

Springer Science and Business Media LLC ; 2014

In: Genome Biology Vol. 15, No. 3 ( 2014), p. R53-

add to watchlist on the watchlist

Details

In: Genome Biology, Springer Science and Business Media LLC, Vol. 15, No. 3 ( 2014), p. R53-

Type of Medium: Online Resource

ISSN: 1465-6906

URL: Article

DOI: 10.1186/gb-2014-15-3-r53

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2014

detail.hit.zdb_id: 2040529-7

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

4

Online Resource

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Weng, Patricia L. ; Majmundar, Amar J. ; Khan, Kamal ; [et al.]

Elsevier BV ; 2021

In: The American Journal of Human Genetics Vol. 108, No. 2 ( 2021-02), p. 357-367

add to watchlist on the watchlist

Details

In: The American Journal of Human Genetics, Elsevier BV, Vol. 108, No. 2 ( 2021-02), p. 357-367

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2021.01.008

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 1473813-2

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

5

Online Resource

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Lovric, Svjetlana ; Goncalves, Sara ; Gee, Heon Yung ; [et al.]

American Society for Clinical Investigation ; 2017

In: Journal of Clinical Investigation Vol. 127, No. 3 ( 2017-2-6), p. 912-928

add to watchlist on the watchlist

Details

In: Journal of Clinical Investigation, American Society for Clinical Investigation, Vol. 127, No. 3 ( 2017-2-6), p. 912-928

Type of Medium: Online Resource

ISSN: 0021-9738 , 1558-8238

URL: Article

DOI: 10.1172/JCI89626

DOI: 10.1172/JCI89626DS1

Language: English

Publisher: American Society for Clinical Investigation

Publication Date: 2017

detail.hit.zdb_id: 2018375-6

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

6

Online Resource

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Wheway, Gabrielle ; UK10K Consortium ; Schmidts, Miriam ; [et al.]

Springer Science and Business Media LLC ; 2015

In: Nature Cell Biology Vol. 17, No. 8 ( 2015-8), p. 1074-1087

add to watchlist on the watchlist

Details

In: Nature Cell Biology, Springer Science and Business Media LLC, Vol. 17, No. 8 ( 2015-8), p. 1074-1087

Type of Medium: Online Resource

ISSN: 1465-7392 , 1476-4679

URL: Article

DOI: 10.1038/ncb3201

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2015

detail.hit.zdb_id: 1494945-3

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

7

Online Resource

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Shamseldin, Hanan ; Alazami, Anas M. ; Manning, Melanie ; [et al.]

Elsevier BV ; 2015

In: The American Journal of Human Genetics Vol. 97, No. 6 ( 2015-12), p. 862-868

add to watchlist on the watchlist

Details

In: The American Journal of Human Genetics, Elsevier BV, Vol. 97, No. 6 ( 2015-12), p. 862-868

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2015.10.012

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2015

detail.hit.zdb_id: 1473813-2

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

8

Online Resource

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

O’Rawe, Jason A. ; Wu, Yiyang ; Dörfel, Max J. ; [et al.]

Elsevier BV ; 2015

In: The American Journal of Human Genetics Vol. 97, No. 6 ( 2015-12), p. 922-932

add to watchlist on the watchlist

Details

In: The American Journal of Human Genetics, Elsevier BV, Vol. 97, No. 6 ( 2015-12), p. 922-932

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2015.11.005

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2015

detail.hit.zdb_id: 1473813-2

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

9

Online Resource

Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

Loucks, Catrina M. ; Parboosingh, Jillian S. ; Shaheen, Ranad ; [et al.]

Hindawi Limited ; 2015

In: Human Mutation Vol. 36, No. 10 ( 2015-10), p. 1015-1019

add to watchlist on the watchlist

Details

In: Human Mutation, Hindawi Limited, Vol. 36, No. 10 ( 2015-10), p. 1015-1019

Type of Medium: Online Resource

ISSN: 1059-7794

URL: Article

DOI: 10.1002/humu.22843

Language: English

Publisher: Hindawi Limited

Publication Date: 2015

detail.hit.zdb_id: 1498165-8

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

10

Online Resource

MG-126 A de novo truncating mutation in the chromatin remodeler chd8 in a patient with autism, macrocephaly and overgrowth

Au, PY Billie ; Smith, Christopher S ; Lamont, Ryan E ; [et al.]

BMJ ; 2015

In: Journal of Medical Genetics Vol. 52, No. Suppl 1 ( 2015-11), p. A6.3-A7

add to watchlist on the watchlist

Details

In: Journal of Medical Genetics, BMJ, Vol. 52, No. Suppl 1 ( 2015-11), p. A6.3-A7

Type of Medium: Online Resource

ISSN: 0022-2593 , 1468-6244

URL: Article

DOI: 10.1136/jmedgenet-2015-103577.17

RVK:

WA 15000

Language: English

Publisher: BMJ

Publication Date: 2015

detail.hit.zdb_id: 2009590-9

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

Link to publisher

Kooperativer Bibliotheksverbund

Berlin Brandenburg