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Alport syndrome: impact of digenic inheritance in patients management

Clinical genetics, 2017-07, Vol.92 (1), p.34-44

2017

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Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Clinical genetics, 2014-09, Vol.86 (3), p.252-257

2014

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Visual impairment in FOXG1 -mutated individuals and mice

Neuroscience, 2016-06, Vol.324, p.496-508

2016

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Non-collagen genes role in digenic Alport syndrome

BMC nephrology, 2019-02, Vol.20 (1), p.70-70, Article 70

2019

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The performance of a solar collector on adsorption refrigerator

Journal of physics. Conference series, 2018-11, Vol.1114 (1), p.12015

2018

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The performance and emissions of diesel engines with biodiesel of sunan pecan seed and diesel oil blends

IOP conference series. Materials Science and Engineering, 2017-12, Vol.277 (1), p.12045

2017

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Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

Brain & development (Tokyo. 1979), 2009-03, Vol.31 (3), p.208-216

2009

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Performance of the natural cooler to keep the freshness of vegetables and fruits in Medan City

IOP conference series. Materials Science and Engineering, 2018-02, Vol.309 (1), p.12089

2018

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The experimental study of thermoelectric cooler performance in Medan city

IOP conference series. Materials Science and Engineering, 2020-12, Vol.1003 (1), p.12064

2020

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Priority of Selection Suppliers with Fuzzy ANP COPRAS-G

Journal of physics. Conference series, 2019-07, Vol.1230 (1), p.12055

2019

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Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Brain & development (Tokyo. 1979), 2010-01, Vol.32 (1), p.17-24

2010

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Corrective Maintenance of Worm Gear a Screw Press Machine with a capacity of 30 tons per hour using Wear Analysis and its response to Conus Pressure

IOP conference series. Materials Science and Engineering, 2020-05, Vol.851 (1), p.12006

2020

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

Journal of medical genetics, 2005-02, Vol.42 (2), p.103-107

2005

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Testing of technology readiness index model based on exploratory factor analysis approach

Journal of physics. Conference series, 2018-04, Vol.1007 (1), p.12043

2018

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Suitability and carrying capacity analyses for marine ecotourism development of the Medang Deras Subdistrict, Batubara district, province of North Sumatera

IOP conference series. Earth and environmental science, 2020-10, Vol.584 (1), p.12010

2020

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Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

Journal of medical genetics, 2010-01, Vol.47 (1), p.49-53

2010

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Effect of Small Amount SiC on Mechanical Properties Composite Fabricated by Casting and Subsequent Rolling Process

IOP conference series. Materials Science and Engineering, 2020-05, Vol.851 (1), p.12013

2020

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The analysis of composite properties reinforced with particles from palm oil industry waste produced by casting methods

IOP conference series. Materials Science and Engineering, 2017-12, Vol.277 (1), p.12028

2017

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The XLMR gene ACSL4 plays a role in dendritic spine architecture

Neuroscience, 2009-03, Vol.159 (2), p.657-669

2009

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Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

Clinical genetics, 2012-10, Vol.82 (4), p.395-403

2012

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Vav1 Haploinsufficiency in a Common Variable Immunodeficiency Patient with Defective T-Cell Function

International journal of immunopathology and pharmacology, 2012-07, Vol.25 (3), p.811-817

2012

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Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view

Journal of cellular physiology, 2005-07, Vol.204 (1), p.8-20

2005

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Solar tracker design on solar panel for stm32 microcontroller based on battery charging system

IOP conference series. Earth and environmental science, 2022-12, Vol.1115 (1), p.12078

2022

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An injuries prevention programme in the transport and cargo handling sector, implemented by the ASL 10 Local Health Unit, Florence

Medicina del lavoro, 2009-07, Vol.100 (4), p.285

2009

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Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features

Clinical genetics, 2003-12, Vol.64 (6), p.497-501

2003

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Alport syndrome: impact of digenic inheritance in patients management

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Visual impairment in FOXG1 -mutated individuals and mice

Non-collagen genes role in digenic Alport syndrome

The performance of a solar collector on adsorption refrigerator

The performance and emissions of diesel engines with biodiesel of sunan pecan seed and diesel oil blends

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

Performance of the natural cooler to keep the freshness of vegetables and fruits in Medan City

The experimental study of thermoelectric cooler performance in Medan city

Priority of Selection Suppliers with Fuzzy ANP COPRAS-G

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Corrective Maintenance of Worm Gear a Screw Press Machine with a capacity of 30 tons per hour using Wear Analysis and its response to Conus Pressure

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

Testing of technology readiness index model based on exploratory factor analysis approach

Suitability and carrying capacity analyses for marine ecotourism development of the Medang Deras Subdistrict, Batubara district, province of North Sumatera

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

Effect of Small Amount SiC on Mechanical Properties Composite Fabricated by Casting and Subsequent Rolling Process

The analysis of composite properties reinforced with particles from palm oil industry waste produced by casting methods

The XLMR gene ACSL4 plays a role in dendritic spine architecture

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

Vav1 Haploinsufficiency in a Common Variable Immunodeficiency Patient with Defective T-Cell Function

Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view

Solar tracker design on solar panel for stm32 microcontroller based on battery charging system

An injuries prevention programme in the transport and cargo handling sector, implemented by the ASL 10 Local Health Unit, Florence

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features

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