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COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2339-2350

2022

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GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.476-485

2021

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Academic development and space operations of a multispectral imaging payload for 1U CubeSats

Journal of applied remote sensing, 2023-10, Vol.17 (4)

2023

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The Impact of the Coronavirus Pandemic on Vaccination Coverage in Latin America and the Caribbean

Vaccines (Basel), 2024-05, Vol.12 (5), p.458

2024

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Surface Passivation of New Channel Materials Utilizing Hydrogen Peroxide and Hydrazine Gas

Solid state phenomena, 2016-09, Vol.255, p.31-35

2016

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MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages

Prenatal diagnosis, 2007-08, Vol.27 (8), p.765-771

2007

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Tris(dimethylamido)aluminum(III) and N2H4: Ideal precursors for the low-temperature deposition of large grain, oriented c-axis AlN on Si via atomic layer annealing

Applied surface science, 2021-07, Vol.554, p.149656, Article 149656

2021

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New Chemical Vapor Delivery Systems for Surface Cleaning

Solid state phenomena, 2013, Vol.195, p.25-29

2013

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Detection of a Paternally Inherited Fetal Mutation in Maternal Plasma by the Use of Automated Sequencing

Annals of the New York Academy of Sciences, 2006-09, Vol.1075 (1), p.108-117

2006

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Experimental and theoretical determination of the role of ions in atomic layer annealing

Journal of materials chemistry. C, Materials for optical and electronic devices, 2022-04, Vol.1 (14), p.577-5715

2022

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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Human molecular genetics, 2022-09, Vol.31 (18), p.3083-3094

2022

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Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Human molecular genetics, 2022-05, Vol.31 (18), p.3083-3094

2022

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Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH

Prenatal diagnosis, 2005-10, Vol.25 (10), p.934-938

2005

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Enabling low temperature metal nitride ALD using ultra-high purity hydrazine: ET/ID: Enabling technologies and innovative devices

2017 28th Annual SEMI Advanced Semiconductor Manufacturing Conference (ASMC), 2017, p.426-430

2017

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Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach

Human reproduction (Oxford), 2006-04, Vol.21 (4), p.958-966

2006

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New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma

Journal of cystic fibrosis, 2008-11, Vol.7 (6), p.505-510

2008

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Advantages of Hydrogen Peroxide as an Oxidant for Atomic Layer Deposition and Related Novel Delivery System

MRS proceedings, 2013, Vol.1494 (1), p.209-214

2013

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Improved uniformity for thin oxides when using wet thermal oxidation

2012 38th IEEE Photovoltaic Specialists Conference, 2012, p.001121-001124

2012

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Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages

Human reproduction (Oxford), 2005-05, Vol.20 (5), p.1235-1243

2005

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New Type of Mutations in Three Spanish Families with Choroideremia

Investigative ophthalmology & visual science, 2008-04, Vol.49 (4), p.1315-1321

2008

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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

Molecular vision, 2008-08, Vol.14, p.1388-1394

2008

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New vaporization sources for H2O2 for pre-treatment/cleaning of ALD deposition surfaces

ASMC 2013 SEMI Advanced Semiconductor Manufacturing Conference, 2013, p.159-162

2013

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Clinical presentation of a variant of Axenfeld–Rieger syndrome associated with subtelomeric 6p deletion

European journal of medical genetics, 2007-03, Vol.50 (2), p.120-127

2007

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Aneuploidy and Polyploidy

The Placenta, 2011, p.270-277

2011

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COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Academic development and space operations of a multispectral imaging payload for 1U CubeSats

The Impact of the Coronavirus Pandemic on Vaccination Coverage in Latin America and the Caribbean

Surface Passivation of New Channel Materials Utilizing Hydrogen Peroxide and Hydrazine Gas

MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages

Tris(dimethylamido)aluminum(III) and N2H4: Ideal precursors for the low-temperature deposition of large grain, oriented c-axis AlN on Si via atomic layer annealing

New Chemical Vapor Delivery Systems for Surface Cleaning

Detection of a Paternally Inherited Fetal Mutation in Maternal Plasma by the Use of Automated Sequencing

Experimental and theoretical determination of the role of ions in atomic layer annealing

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH

Enabling low temperature metal nitride ALD using ultra-high purity hydrazine: ET/ID: Enabling technologies and innovative devices

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma

Advantages of Hydrogen Peroxide as an Oxidant for Atomic Layer Deposition and Related Novel Delivery System

Improved uniformity for thin oxides when using wet thermal oxidation

Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages

New Type of Mutations in Three Spanish Families with Choroideremia

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

New vaporization sources for H2O2 for pre-treatment/cleaning of ALD deposition surfaces

Clinical presentation of a variant of Axenfeld–Rieger syndrome associated with subtelomeric 6p deletion

Aneuploidy and Polyploidy

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