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NAD Deficiency, Congenital Malformations, and Niacin Supplementation

The New England journal of medicine, 2017-08, Vol.377 (6), p.544-552

2017

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Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy

Neurobiology of disease, 2020-02, Vol.134, p.104640-104640, Article 104640

2020

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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.152-160

2012

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SOX3 promotes generation of committed spermatogonia in postnatal mouse testes

Scientific reports, 2020-04, Vol.10 (1), p.6751-6751, Article 6751

2020

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Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy

Neuron (Cambridge, Mass.), 2018-01, Vol.97 (1), p.59-66.e5

2018

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A system to enrich for primitive streak-derivatives, definitive endoderm and mesoderm, from pluripotent cells in culture

PloS one, 2012-06, Vol.7 (6), p.e38645

2012

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Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism

Clinical endocrinology (Oxford), 2016-10, Vol.85 (4), p.609-615

2016

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Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice

Scientific reports, 2016-05, Vol.6 (1), p.26765-26765, Article 26765

2016

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Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation

Nature structural & molecular biology, 2015-12, Vol.22 (12), p.1008-1015

2015

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Manipulation of cell:cell contacts and mesoderm suppressing activity direct lineage choice from pluripotent primitive ectoderm-like cells in culture

PloS one, 2009-05, Vol.4 (5), p.e5579-e5579

2009

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Comparison of KP1019 and NAMI-A in tumour-mimetic environments

Metallomics, 2016-08, Vol.8 (8), p.762-773

2016

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Progress Toward Zygotic and Germline Gene Drives in Mice

CRISPR journal, 2020-10, Vol.3 (5), p.388-397

2020

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A Novel Role for γ‐Secretase in the Formation of Primitive Streak‐like Intermediates from ES Cells in Culture

Stem cells (Dayton, Ohio), 2009-12, Vol.27 (12), p.2941-2951

2009

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Response to BMP4 signalling during ES cell differentiation defines intermediates of the ectoderm lineage

Journal of cell science, 2010-05, Vol.123 (10), p.1796-1804

2010

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Molecular pathology of polyalanine expansion disorders: new perspectives from mouse models

Methods in molecular biology (Clifton, N.J.), 2013, Vol.1017, p.135

2013

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Comparison of KP1019 and NAMI-A in tumour-mimetic environmentsElectronic supplementary information (ESI) available. See DOI: 10.1039/c6mt00145a

2016-08

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A System to Enrich for Primitive Streak-Derivatives, Definitive Endoderm and Mesoderm, from Pluripotent Cells in Culture

PloS one, 2012-06, Vol.7 (6), p.e38645

2012

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An experimental study of big spatial data systems

2016 IEEE International Conference on Big Data (Big Data), 2016, p.2664-2671

2016

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Hereditary Hæmorrhagic Tendency: A Case of Hereditary Hœmorrhagic Tendency

The Boston Medical and Surgical Journal, 1832-05, Vol.6 (14), p.220-221

Hughes, James N.

1832

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Handbook of Research-Based Practices for Educating Students with Intellectual Disability

Shogren, Karrie A

1, 2016

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Prevalence and outcome of dual aortic stenosis and cardiac amyloid pathology in patients referred for transcatheter aortic valve implantation

European heart journal, 2020-08, Vol.41 (29), p.2759-2767

2020

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Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus

Nature genetics, 2021-11, Vol.53 (11), p.1606-1615

2021

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Ocean regulation hypothesis for glacier dynamics in southeast Greenland and implications for ice sheet mass changes

Journal of Geophysical Research: Earth Surface, 2010-09, Vol.115 (F3), p.n/a

2010

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Alectinib in Crizotinib-Refractory ALK-Rearranged Non-Small-Cell Lung Cancer: A Phase II Global Study

Journal of clinical oncology, 2016-03, Vol.34 (7), p.661-668

2016

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NAD Deficiency, Congenital Malformations, and Niacin Supplementation

Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

SOX3 promotes generation of committed spermatogonia in postnatal mouse testes

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy

A system to enrich for primitive streak-derivatives, definitive endoderm and mesoderm, from pluripotent cells in culture

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism

Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice

Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation

Manipulation of cell:cell contacts and mesoderm suppressing activity direct lineage choice from pluripotent primitive ectoderm-like cells in culture

Comparison of KP1019 and NAMI-A in tumour-mimetic environments

Progress Toward Zygotic and Germline Gene Drives in Mice

A Novel Role for γ‐Secretase in the Formation of Primitive Streak‐like Intermediates from ES Cells in Culture

Response to BMP4 signalling during ES cell differentiation defines intermediates of the ectoderm lineage

Molecular pathology of polyalanine expansion disorders: new perspectives from mouse models

Comparison of KP1019 and NAMI-A in tumour-mimetic environmentsElectronic supplementary information (ESI) available. See DOI: 10.1039/c6mt00145a

A System to Enrich for Primitive Streak-Derivatives, Definitive Endoderm and Mesoderm, from Pluripotent Cells in Culture

An experimental study of big spatial data systems

Hereditary Hæmorrhagic Tendency: A Case of Hereditary Hœmorrhagic Tendency

Handbook of Research-Based Practices for Educating Students with Intellectual Disability

Prevalence and outcome of dual aortic stenosis and cardiac amyloid pathology in patients referred for transcatheter aortic valve implantation

Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus

Ocean regulation hypothesis for glacier dynamics in southeast Greenland and implications for ice sheet mass changes

Alectinib in Crizotinib-Refractory ALK-Rearranged Non-Small-Cell Lung Cancer: A Phase II Global Study

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