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SETD1B -associated neurodevelopmental disorder

Journal of medical genetics, 2021-03, Vol.58 (3), p.196-204

2021

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Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.3087-3092

2017

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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

American journal of human genetics, 2017-07, Vol.101 (1), p.65-74

2017

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Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Cold Spring Harbor molecular case studies, 2017-01, Vol.3 (1), p.a001156-a001156

2017

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Episodic ataxia associated with a de novo SCN2A mutation

European journal of paediatric neurology, 2016-09, Vol.20 (5), p.772-776

2016

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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Human mutation, 2016-03, Vol.37 (3), p.301-307

2016

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Survival of effector CD8+ T cells during influenza infection is dependent on autophagy

The Journal of immunology (1950), 2015-05, Vol.194 (9), p.4277-4286

2015

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Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2360-2364

2014

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Tumor vascularity in ovarian cancer: T cells need breathing room

Oncoimmunology, 2014-04, Vol.3 (4), p.e28272-e28272

2014

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Markers of T cell infiltration and function associate with favorable outcome in vascularized high-grade serous ovarian carcinoma

PloS one, 2013-12, Vol.8 (12), p.e82406

2013

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Markers of T Cell Infiltration and Function Associate with Favorable Outcome in Vascularized High-Grade Serous Ovarian Carcinoma: e82406

PloS one, 2013-12, Vol.8 (12)

2013

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The autophagy protein LC3A correlates with hypoxia and is a prognostic marker of patient survival in clear cell ovarian cancer

The Journal of pathology, 2012-12, Vol.228 (4), p.437-447

2012

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Autophagy inhibition in cancer therapy: metabolic considerations for antitumor immunity

Immunological reviews, 2012-09, Vol.249 (1), p.176-194

2012

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Understanding CD8 T cell Function under the Tumour Environment Condition Hypoxia

Townsend, Katelin N

2012

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Autophagy inhibition in cancer therapy: metabolic considerations for antitumor immunity: Metabolism and Autophagy in the Immune System

Immunological reviews, 2012, Vol.249, p.176-194

2012

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When Cells Suffocate: Autophagy in Cancer and Immune Cells under Low Oxygen

International Journal of Cell Biology, 2011, Vol.2011, p.470597-13

2011

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SETD1B -associated neurodevelopmental disorder

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Episodic ataxia associated with a de novo SCN2A mutation

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Survival of effector CD8+ T cells during influenza infection is dependent on autophagy

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

Tumor vascularity in ovarian cancer: T cells need breathing room

Markers of T cell infiltration and function associate with favorable outcome in vascularized high-grade serous ovarian carcinoma

Markers of T Cell Infiltration and Function Associate with Favorable Outcome in Vascularized High-Grade Serous Ovarian Carcinoma: e82406

The autophagy protein LC3A correlates with hypoxia and is a prognostic marker of patient survival in clear cell ovarian cancer

Autophagy inhibition in cancer therapy: metabolic considerations for antitumor immunity

Understanding CD8 T cell Function under the Tumour Environment Condition Hypoxia

Autophagy inhibition in cancer therapy: metabolic considerations for antitumor immunity: Metabolism and Autophagy in the Immune System

When Cells Suffocate: Autophagy in Cancer and Immune Cells under Low Oxygen

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