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A Neurologist’s Guide to TNF Biology and to the Principles behind the Therapeutic Removal of Excess TNF in Disease

Neural plasticity, 2015-01, Vol.2015 (2015), p.1-10

2015

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Molecular testing in holoprosencephaly

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-06, Vol.178 (2), p.187-193

2018

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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Bone (New York, N.Y.), 2020-04, Vol.133, p.115219-115219, Article 115219

2020

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De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

American journal of human genetics, 2016-10, Vol.99 (4), p.934-941

2016

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Low-level parental mosaicism affects the recurrence risk of holoprosencephaly

Genetics in medicine, 2019-04, Vol.21 (4), p.1015-1020

2019

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A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

American journal of human genetics, 2019-05, Vol.104 (5), p.990-993

2019

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An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility

Biological psychiatry (1969), 2016-12, Vol.80 (12), p.943-954

2016

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Novel heterozygous variants in KMT2D associated with holoprosencephaly

Clinical genetics, 2019-09, Vol.96 (3), p.266-270

2019

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Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-06, Vol.178 (2), p.246-257

2018

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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

Genetics in medicine, 2020-02, Vol.22 (2), p.389-397

2020

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Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2657-2663

2015

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From Linkage Studies to Epigenetics: What We Know and What We Need to Know in the Neurobiology of Schizophrenia

Frontiers in neuroscience, 2016-05, Vol.10, p.202-202

2016

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Machine Learning Prediction of ADHD Severity: Association and Linkage to ADGRL3, DRD4, and SNAP25

Journal of attention disorders, 2022-02, Vol.26 (4), p.587-605

2022

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Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos

Anatomical record (Hoboken, N.J. : 2007), 2018-06, Vol.301 (6), p.973-986

2018

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Determination of organochlorine and organophosphorus residues in surface waters from the coffee zone in Quindío, Colombia

Journal of environmental science and health. Part B, Pesticides, food contaminants, and agricultural wastes, 2020, Vol.55 (11), p.968-973

2020

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Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Journal of medical genetics, 2017-12, Vol.54 (12), p.825-829

2017

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Luce Irigaray, ¿pensadora queer?

Estudos feministas, 2023, Vol.31 (1), p.1-14

Martinez, Ariel

2023

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Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

Journal of hepatology, 2017-10, Vol.67 (4), p.809-817

2017

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The Vast Complexity of the Epigenetic Landscape during Neurodevelopment: An Open Frame to Understanding Brain Function

International journal of molecular sciences, 2018-05, Vol.19 (5), p.1333

2018

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Prevalence of Dirofilaria immitis in shelter dogs in Bucaramanga metropolitan area, Colombia

Veterinary parasitology (Amsterdam), 2020-12, Vol.22, p.100489-100489, Article 100489

2020

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Analysis of renal anomalies in VACTERL association

Birth defects research. A Clinical and molecular teratology, 2014-10, Vol.100 (10), p.801-805

2014

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Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation

Stem cell research, 2020-07, Vol.46, p.101823, Article 101823

2020

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Can classic biological invasion hypotheses be applied to reported cases of non-native terrestrial species in the Maritime Antarctic?

Antarctic science, 2022-06, Vol.34 (3), p.226-245

2022

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SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

Congenital anomalies, 2018-01, Vol.58 (1), p.29-32

2018

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Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

European journal of medical genetics, 2020-02, Vol.63 (2), p.103643-103643, Article 103643

2020

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A Neurologist’s Guide to TNF Biology and to the Principles behind the Therapeutic Removal of Excess TNF in Disease

Molecular testing in holoprosencephaly

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility

Novel heterozygous variants in KMT2D associated with holoprosencephaly

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature

From Linkage Studies to Epigenetics: What We Know and What We Need to Know in the Neurobiology of Schizophrenia

Machine Learning Prediction of ADHD Severity: Association and Linkage to ADGRL3, DRD4, and SNAP25

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos

Determination of organochlorine and organophosphorus residues in surface waters from the coffee zone in Quindío, Colombia

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Luce Irigaray, ¿pensadora queer?

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

The Vast Complexity of the Epigenetic Landscape during Neurodevelopment: An Open Frame to Understanding Brain Function

Prevalence of Dirofilaria immitis in shelter dogs in Bucaramanga metropolitan area, Colombia

Analysis of renal anomalies in VACTERL association

Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation

Can classic biological invasion hypotheses be applied to reported cases of non-native terrestrial species in the Maritime Antarctic?

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

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