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1

Online Resource

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

Marom, Ronit ; Burrage, Lindsay C. ; Venditti, Rossella ; [et al.]

Elsevier BV ; 2021

In: The American Journal of Human Genetics Vol. 108, No. 9 ( 2021-09), p. 1710-1724

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 108, No. 9 ( 2021-09), p. 1710-1724

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2021.08.002

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 1473813-2

SSG: 12

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2

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The Transcription Factor Encyclopedia

Yusuf, Dimas ; Butland, Stefanie L ; Swanson, Magdalena I ; [et al.]

Springer Science and Business Media LLC ; 2012

In: Genome Biology Vol. 13, No. 3 ( 2012), p. R24-

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In: Genome Biology, Springer Science and Business Media LLC, Vol. 13, No. 3 ( 2012), p. R24-

Type of Medium: Online Resource

ISSN: 1465-6906

URL: Article

DOI: 10.1186/gb-2012-13-3-r24

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2012

detail.hit.zdb_id: 2040529-7

SSG: 12

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3

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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Ravenscroft, Thomas A. ; Phillips, Jennifer B. ; Fieg, Elizabeth ; [et al.]

Elsevier BV ; 2021

In: Genetics in Medicine Vol. 23, No. 10 ( 2021-10), p. 1889-1900

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In: Genetics in Medicine, Elsevier BV, Vol. 23, No. 10 ( 2021-10), p. 1889-1900

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-021-01216-8

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2063504-7

SSG: 12

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4

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello ; [et al.]

Elsevier BV ; 2023

In: The American Journal of Human Genetics Vol. 110, No. 5 ( 2023-05), p. 774-789

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 110, No. 5 ( 2023-05), p. 774-789

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2023.03.012

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 1473813-2

SSG: 12

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5

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, Shilpa Nadimpalli ; Baldridge, Dustin ; Velinder, Matt ; [et al.]

Elsevier BV ; 2021

In: Genetics in Medicine Vol. 23, No. 6 ( 2021-06), p. 1075-1085

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In: Genetics in Medicine, Elsevier BV, Vol. 23, No. 6 ( 2021-06), p. 1075-1085

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-020-01084-8

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2063504-7

SSG: 12

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6

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Clinical Implications of Identifying Non-B Subtypes of Human Immunodeficiency Virus Type 1 Infection

Walter, Elizabeth A. ; Gilliam, Bruce ; Delmar, Judy A. ; [et al.]

Oxford University Press (OUP) ; 2000

In: Clinical Infectious Diseases Vol. 31, No. 3 ( 2000-09-01), p. 798-802

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In: Clinical Infectious Diseases, Oxford University Press (OUP), Vol. 31, No. 3 ( 2000-09-01), p. 798-802

Type of Medium: Online Resource

ISSN: 1537-6591 , 1058-4838

URL: Article

DOI: 10.1086/314044

RVK:

XA 10000

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2000

detail.hit.zdb_id: 2002229-3

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7

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Modeling of frequency doubling and tripling with measured crystal spatial refractive-index nonuniformities

Auerbach, Jerome M. ; Wegner, Paul J. ; Couture, Scott A. ; [et al.]

Optica Publishing Group ; 2001

In: Applied Optics Vol. 40, No. 9 ( 2001-03-20), p. 1404-

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In: Applied Optics, Optica Publishing Group, Vol. 40, No. 9 ( 2001-03-20), p. 1404-

Type of Medium: Online Resource

ISSN: 0003-6935 , 1539-4522

URL: Article

DOI: 10.1364/AO.40.001404

Language: English

Publisher: Optica Publishing Group

Publication Date: 2001

detail.hit.zdb_id: 207387-0

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8

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Johnson, Brett V. ; Kumar, Raman ; Oishi, Sabrina ; [et al.]

Elsevier BV ; 2020

In: Biological Psychiatry Vol. 87, No. 2 ( 2020-01), p. 100-112

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In: Biological Psychiatry, Elsevier BV, Vol. 87, No. 2 ( 2020-01), p. 100-112

Type of Medium: Online Resource

ISSN: 0006-3223

URL: Article

DOI: 10.1016/j.biopsych.2019.05.028

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2020

detail.hit.zdb_id: 1499907-9

SSG: 12

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9

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Prevalence of genotypic and phenotypic resistance to anti-retroviral drugs in a cohort of therapy-naïve HIV-1 infected US military personnel

Wegner, Scott A. ; Brodine, Stephanie K. ; Mascola, John R. ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2000

In: AIDS Vol. 14, No. 8 ( 2000-05), p. 1009-1015

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In: AIDS, Ovid Technologies (Wolters Kluwer Health), Vol. 14, No. 8 ( 2000-05), p. 1009-1015

Type of Medium: Online Resource

ISSN: 0269-9370

URL: Article

DOI: 10.1097/00002030-200005260-00013

RVK:

XA 16838

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2000

detail.hit.zdb_id: 2012212-3

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10

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Diverse HIV-1 subtypes and clinical, laboratory and behavioral factors in a recently infected US military cohort

Brodine, Stephanie K ; Starkey, Monica J ; Shaffer, Richard A ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2003

In: AIDS Vol. 17, No. 17 ( 2003-11), p. 2521-2527

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In: AIDS, Ovid Technologies (Wolters Kluwer Health), Vol. 17, No. 17 ( 2003-11), p. 2521-2527

Type of Medium: Online Resource

ISSN: 0269-9370

URL: Article

DOI: 10.1097/00002030-200311210-00016

RVK:

XA 16838

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2003

detail.hit.zdb_id: 2012212-3

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Berlin Brandenburg