Lista de obras - Kaja K Selmer - Dominio Público Uruguay

A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.

artículo científico publicado en 2012

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

artículo científico publicado en 2016

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions ⬇️

artículo científico publicado el 29 de junio de 2011

Aicardi syndrome: an epidemiologic and clinical study in Norway

artículo científico publicado en 2014

Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene

artículo científico publicado en 2009

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

artículo científico publicado en 2017

CHD2 mutations in Lennox-Gastaut syndrome

artículo científico publicado en 2014

Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease

artículo científico publicado en 2019

Copy number variants in adult patients with Lennox–Gastaut syndrome features ⬇️

artículo científico publicado el 13 de febrero de 2013

Dravet syndrome as a cause of epilepsy and learning disability ⬇️

artículo científico publicado el 10 de enero de 2012

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

artículo científico publicado en 2016

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.

artículo científico publicado en 2016

Friedreich ataxia in Norway - an epidemiological, molecular and clinical study

artículo científico publicado en 2015

Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.

artículo científico publicado en 2015

Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+

scientific article published on 10 October 2007

Genome-wide linkage analysis with clustered SNP markers

artículo científico publicado en 2009

Glucose transporter protein type 1 (GLUT-1) deficiency syndrome

artículo científico publicado en 2011

Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study

artículo científico publicado en 2013

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease

artículo científico publicado en 2019

Microbiota-gut brain axis involvement in neuropsychiatric disorders

artículo científico publicado en 2019

Modified Atkins diet may reduce serum concentrations of antiepileptic drugs

scientific article published on 14 October 2014

Novel UCHL1 mutations reveal new insights into ubiquitin processing

artículo científico publicado en 2016

Novel UCHL1 mutations reveal new insights into ubiquitin processing

artículo científico publicado en 2017

Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet

artículo científico publicado en 2014

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

artículo científico publicado en 2017

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

artículo científico publicado en 2016

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

artículo científico publicado en 2020

Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study

artículo científico publicado en 2017

SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features

scientific article published on 24 September 2009

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

artículo científico publicado en 2008

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

artículo científico publicado en 2014

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

artículo científico publicado en 2016

[Juvenile myoclonic epilepsy]

artículo científico publicado en 2012

Lista de obras de Kaja K Selmer

A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions ⬇️

Aicardi syndrome: an epidemiologic and clinical study in Norway

Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

CHD2 mutations in Lennox-Gastaut syndrome

Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease

Copy number variants in adult patients with Lennox–Gastaut syndrome features ⬇️

Dravet syndrome as a cause of epilepsy and learning disability ⬇️

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.

Friedreich ataxia in Norway - an epidemiological, molecular and clinical study

Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.

Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+

Genome-wide linkage analysis with clustered SNP markers

Glucose transporter protein type 1 (GLUT-1) deficiency syndrome

Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study

Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease

Microbiota-gut brain axis involvement in neuropsychiatric disorders

Modified Atkins diet may reduce serum concentrations of antiepileptic drugs

Novel UCHL1 mutations reveal new insights into ubiquitin processing

Novel UCHL1 mutations reveal new insights into ubiquitin processing

Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study

SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

[Juvenile myoclonic epilepsy]