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Publications in Genetics

Intracellular Directed Evolution of Proteins From Combinatorial Libraries Based on Conditional Phage Replication

Nature Protocols

English

Defective DNA Polymerase Α-Primase Leads to X-Linked Intellectual Disability Associated With Severe Growth Retardation, Microcephaly, and Hypogonadism

American Journal of Human Genetics

Genetics

2019

English

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

American Journal of Human Genetics

Genetics

2019

English

Simultaneous Isolation of High-Quality DNA, RNA, miRNA and Proteins From Tissues for Genomic Applications

English

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

American Journal of Human Genetics

Genetics

2015

English

Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation

American Journal of Human Genetics

Genetics

2019

English

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

American Journal of Human Genetics

Genetics

2011

English

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

American Journal of Human Genetics

Genetics

2013

English

Solid-Phase Proximity Ligation Assays for Individual or Parallel Protein Analyses With Readout via Real-Time PCR or Sequencing

English

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy With Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

American Journal of Human Genetics

Genetics

2016

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications in Genetics

Intracellular Directed Evolution of Proteins From Combinatorial Libraries Based on Conditional Phage Replication

Defective DNA Polymerase Α-Primase Leads to X-Linked Intellectual Disability Associated With Severe Growth Retardation, Microcephaly, and Hypogonadism

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

Simultaneous Isolation of High-Quality DNA, RNA, miRNA and Proteins From Tissues for Genomic Applications

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Solid-Phase Proximity Ligation Assays for Individual or Parallel Protein Analyses With Readout via Real-Time PCR or Sequencing

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy With Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis