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

European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.552-559

2017

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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 monoallelic UXS1 variant associated with short‐limbed short stature

Molecular genetics & genomic medicine, 2024-06, Vol.12 (6), p.e2472-n/a

2024

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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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Predictive testing should be in the child's best interests

Tidsskrift for den Norske Lægeforening, 2016-09, Vol.136 (17), p.1421-1421

Prescott, Trine

2016

Volltextzugriff (PDF)

Prediktiv gentesting skal være til barnets beste

Tidsskrift for den Norske Lægeforening, 2016, Vol.136 (17), p.1421-1421

Prescott, Trine

2016

Volltextzugriff (PDF)

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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A diagnostic revolution

Tidsskrift for den Norske Lægeforening, 2013-08, Vol.133 (15), p.1550-1551

Prescott, Trine

2013

Volltextzugriff (PDF)

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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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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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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Prophylactic Allogeneic Hematopoietic Stem Cell Therapy for CSF1R‐Related Leukoencephalopathy

Movement disorders, 2022-05, Vol.37 (5), p.1108-1109

2022

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En diagnostisk revolusjon

Tidsskrift for den Norske Lægeforening, 2013, Vol.133 (15), p.1550-1550

Prescott, Trine

2013

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Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

Journal of medical genetics, 2023-01, Vol.60 (1), p.57

2023

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The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

American journal of human genetics, 2019-04, Vol.104 (4), p.749-757

2019

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Phenotypic expansion of ARSK‐related mucopolysaccharidosis

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

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

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

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 monoallelic UXS1 variant associated with short‐limbed short stature

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

Predictive testing should be in the child's best interests

Prediktiv gentesting skal være til barnets beste

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

A diagnostic revolution

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

Påvisning av kromosomavvik ved hjelp av DNA-matriser

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

Prophylactic Allogeneic Hematopoietic Stem Cell Therapy for CSF1R‐Related Leukoencephalopathy

En diagnostisk revolusjon

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

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