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Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends

Computational and structural biotechnology journal, 2020-01, Vol.18, p.2463-2470

2020

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Improved noninvasive fetal variant calling using standardized benchmarking approaches

Computational and structural biotechnology journal, 2021-01, Vol.19, p.509-517

2021

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Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

Experimental dermatology, 2021-09, Vol.30 (9), p.1290-1297

2021

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A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

Molecular vision, 2019, Vol.25 (1), p.155-164

2019

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P766: A combined Bayesian inference and machine-learning approach for prenatal screening by cell free DNA of monogenic disorders

Genetics in Medicine Open, 2024, Vol.2, p.101674, Article 101674

2024

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P762: Short-read haplotype-assisted genotyping for prenatal screening of monogenic disorders

Genetics in Medicine Open, 2024, Vol.2, p.101670, Article 101670

2024

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Genome-Wide Noninvasive Prenatal Diagnosis of SNPs and Indels

Methods in molecular biology (Clifton, N.J.), 2021-01, Vol.2243, p.227

2021

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Genome-Wide Noninvasive Prenatal Diagnosis of De Novo Mutations

Methods in molecular biology (Clifton, N.J.), 2021-01, Vol.2243, p.249

2021

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Cover Image

Prenatal diagnosis, 2024-08, Vol.44 (9)

2024

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Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma

Journal of investigative dermatology, 2020-11, Vol.140 (11), p.2178-2187

2020

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Machine learning-enhanced noninvasive prenatal testing of monogenic disorders

Prenatal diagnosis, 2024-08, Vol.44 (9), p.1024-1032

2024

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Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

Journal of investigative dermatology, 2018-08, Vol.138 (8), p.1736-1743

2018

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PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India

Annals of human genetics, 2022-01, Vol.86 (1), p.1-13

2022

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LINEAR MYCOSIS FUNGOIDES IN A BLASCHKOID DISTRIBUTION

הרפואה, 2020-01, Vol.159 (1), p.25

2020

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Bisphosphoglycerate mutase controls serine pathway flux via 3-phosphoglycerate

Nature chemical biology, 2017-10, Vol.13 (10), p.1081

2017

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Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Neurology, 2016-05, Vol.86 (21), p.2016

2016

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Building machines that learn and think for themselves

The Behavioral and brain sciences, 2017, Vol.40, p.e255-e255, Article e255

2017

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Abstract 100: Integrated Cardiac Metabolism In End-Stage Human Heart Failure

Circulation research, 2021-09, Vol.129 (Suppl_1)

2021

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Metformin exposure and survival in head and neck cancer: A large population‐based cohort study

Journal of clinical pharmacy and therapeutics, 2019-08, Vol.44 (4), p.588-594

2019

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Bisphosphoglycerate Mutase Deficiency Protects against Cerebral Malaria and Severe Malaria-Induced Anemia

Cell reports (Cambridge), 2020-09, Vol.32 (12), p.108170-108170, Article 108170

2020

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Recirculatory pharmacokinetic model of the uptake, distribution, and bioavailability of prochlorperazine administered as a thermally generated aerosol in a single breath to dogs

Drug metabolism and disposition, 2007-02, Vol.35 (2), p.262

2007

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Evidence-based practice for telemental health

Telemedicine journal and e-health, 2011-03, Vol.17 (2), p.131

2011

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Should I Tear down This Wall? Optimizing Social Metrics by Evaluating Novel Actions

Coordination, Organizations, Institutions, Norms, and Ethics for Governance of Multi-Agent Systems XIII, p.114-130

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Preconditioning in Globally Ischemic Isolated Rat Hearts: Effect on Function and Metabolic Indices of Myocardial Damage

Journal of molecular and cellular cardiology, 1996-12, Vol.28 (12), p.2479-2490

1996

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The effect of ischemic preconditioning on the ischemic arrest time

Journal of molecular and cellular cardiology, 1992-08, Vol.24, p.S78-S78

1992

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Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends

Improved noninvasive fetal variant calling using standardized benchmarking approaches

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

P766: A combined Bayesian inference and machine-learning approach for prenatal screening by cell free DNA of monogenic disorders

P762: Short-read haplotype-assisted genotyping for prenatal screening of monogenic disorders

Genome-Wide Noninvasive Prenatal Diagnosis of SNPs and Indels

Genome-Wide Noninvasive Prenatal Diagnosis of De Novo Mutations

Cover Image

Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma

Machine learning-enhanced noninvasive prenatal testing of monogenic disorders

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India

LINEAR MYCOSIS FUNGOIDES IN A BLASCHKOID DISTRIBUTION

Bisphosphoglycerate mutase controls serine pathway flux via 3-phosphoglycerate

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Building machines that learn and think for themselves

Abstract 100: Integrated Cardiac Metabolism In End-Stage Human Heart Failure

Metformin exposure and survival in head and neck cancer: A large population‐based cohort study

Bisphosphoglycerate Mutase Deficiency Protects against Cerebral Malaria and Severe Malaria-Induced Anemia

Recirculatory pharmacokinetic model of the uptake, distribution, and bioavailability of prochlorperazine administered as a thermally generated aerosol in a single breath to dogs

Evidence-based practice for telemental health

Should I Tear down This Wall? Optimizing Social Metrics by Evaluating Novel Actions

Preconditioning in Globally Ischemic Isolated Rat Hearts: Effect on Function and Metabolic Indices of Myocardial Damage

The effect of ischemic preconditioning on the ischemic arrest time

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