Lista de obras - Sander Pajusalu - Dominio Público Uruguay

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

scientific article published on 18 May 2018

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

article

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

scientific article published on 11 June 2019

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

artículo científico publicado en 2020

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

artículo científico publicado en 2019

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

artículo científico publicado en 2018

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

artículo científico publicado en 2020

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

artículo científico publicado en 2015

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

artículo científico publicado en 2018

Diffuse hypomyelination is not obligate for POLR3-related disorders

artículo científico publicado en 2016

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11

scientific article published on 10 November 2018

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

scientific article published on 15 March 2018

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

article

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening

scientific article published on 08 August 2019

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

scientific article published on 05 February 2020

Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice.

artículo científico publicado en 2018

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

artículo científico publicado en 2017

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

artículo científico publicado en 2021

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome

artículo científico publicado en 2015

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy

artículo científico publicado en 2019

POLRMT mutations impair mitochondrial transcription causing neurological disease

artículo científico publicado en 2021

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

artículo científico publicado en 2017

Three families with mild PMM2-CDG and normal cognitive development.

artículo científico publicado en 2017

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

artículo científico publicado en 2018

Lista de obras de Sander Pajusalu

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Diffuse hypomyelination is not obligate for POLR3-related disorders

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice.

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy

POLRMT mutations impair mitochondrial transcription causing neurological disease

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

Three families with mild PMM2-CDG and normal cognitive development.

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases