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Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

American journal of human genetics, 2016-01, Vol.98 (1), p.202-209

2016

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Nature genetics, 2009-12, Vol.41 (12), p.1272-1274

2009

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Phenotypic expansion of ARSK‐related mucopolysaccharidosis

American journal of medical genetics. Part A, 2022-11, Vol.188 (11), p.3369-3373

2022

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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

Journal of medical genetics, 2023-11, Vol.61 (3), p.250

2023

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Positive response to imatinib in PDGFRB‐related Kosaki overgrowth syndrome

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2597-2601

2021

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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.272-282

2022

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En gravid kvinne med pancytopeni

Tidsskrift for den Norske Lægeforening, 2019, Vol.139 (17)

2019

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A pregnant woman with pancytopenia

Tidsskrift for den Norske Lægeforening, 2019-11, Vol.139 (17)

2019

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A 5.8kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome

Gene, 2013-04, Vol.518 (2), p.457-460

2013

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A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome

Gene, 2013-04, Vol.518 (2), p.457-460

2013

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Two male sibs with severe micrognathia and a missense variant in MED12

European journal of medical genetics, 2016-08, Vol.59 (8), p.367-372

2016

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Comment on the article “Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri” by van den Munckhof et al

Neurogenetics, 2012-02, Vol.13 (1), p.103-104

2012

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Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system - or skeletal anomalies

Acta obstetricia et gynecologica Scandinavica, 2008-01, Vol.87 (10), p.998-1005

2008

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Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection

Clinical dysmorphology, 2009-04, Vol.18 (2), p.78

2009

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Distal phalangeal creases – A distinctive dysmorphic feature in disorders of the RAS signalling pathway?

European journal of medical genetics, 2007-03, Vol.50 (2), p.155-158

2007

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Påvisning av kromosomavvik ved hjelp av DNA-matriser

Tidsskrift for den Norske Lægeforening, 2010, Vol.130 (9), p.944-947

2010

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Posterior helical pits

European journal of medical genetics, 2007-03, Vol.50 (2), p.159-161

2007

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Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien

Tidsskrift for den Norske Lægeforening, 2009, Vol.129 (22), p.2358-2361

2009

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A pregnant woman with pancytopenia

Tidsskrift for den Norske Lægeforening, 2019-11, Vol.139 (17)

2019

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A surrealistic mega-analysis of redisorganization theories

Journal of the Royal Society of Medicine, 2005-12, Vol.98 (12), p.563-568

Oxman, A. D

2005

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A Surrealistic Mega-Analysis of Redisorganization Theories

Healthcare quarterly (Toronto, Ont.), 2006, Vol.9 (3), p.50-54

2006

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Determination of chromosome aberrations with the help of DNA arrays

Tidsskrift for den Norske Lægeforening, 2010-05, Vol.130 (9), p.944-947

2010

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A Surrealistic Mega-Analysis of Redisorganization Theories

Journal of the Royal Society of Medicine, 2005-12, Vol.98 (12), p.563-568

2005

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Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome

American journal of medical genetics. Part A, 2021, Vol.185 (8), p.2597-2601

2021

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Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Phenotypic expansion of ARSK‐related mucopolysaccharidosis

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

Positive response to imatinib in PDGFRB‐related Kosaki overgrowth syndrome

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

En gravid kvinne med pancytopeni

A pregnant woman with pancytopenia

A 5.8kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome

A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome

Two male sibs with severe micrognathia and a missense variant in MED12

Comment on the article “Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri” by van den Munckhof et al

Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system - or skeletal anomalies

Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection

Distal phalangeal creases – A distinctive dysmorphic feature in disorders of the RAS signalling pathway?

Påvisning av kromosomavvik ved hjelp av DNA-matriser

Posterior helical pits

Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien

A pregnant woman with pancytopenia

Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability

A surrealistic mega-analysis of redisorganization theories

A Surrealistic Mega-Analysis of Redisorganization Theories

Determination of chromosome aberrations with the help of DNA arrays

A Surrealistic Mega-Analysis of Redisorganization Theories

Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome

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