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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Scientific reports, 2024-05, Vol.14 (1), p.11239-11239, Article 11239

2024

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COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes

Stroke (1970), 2021-10, Vol.52 (10), p.e624-e625

2021

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Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations

European journal of paediatric neurology, 2016-01, Vol.20 (1), p.164-167

2016

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Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

Journal of allergy and clinical immunology, 2021-08, Vol.148 (2), p.599-611

2021

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Clinical first-trimester routine screening for Down syndrome in singleton pregnancies in northern Finland

American journal of obstetrics and gynecology, 2007-03, Vol.196 (3), p.278.e1-278.e5

2007

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Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Clinical genetics, 2023-12, Vol.104 (6), p.686-693

2023

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Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

American journal of human genetics, 2016-04, Vol.98 (4), p.735-743

2016

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Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

Clinical genetics, 2020-11, Vol.98 (5), p.493-498

2020

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Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family

Cancer letters, 2011-03, Vol.302 (2), p.113-118

2011

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Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

Clinical Medicine Insights: Reproductive Health, 2014-01, Vol.2014 (2014), p.45-49

2014

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Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation

European journal of medical genetics, 2013-07, Vol.56 (7), p.389-396

2013

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Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders

Mitochondrion, 2012-09, Vol.12 (5), p.576

2012

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More invasive procedures are done to detect each case of Down's syndrome in younger women

Acta obstetricia et gynecologica Scandinavica, 2011-06, Vol.90 (6), p.642-647

2011

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False-negative results in routine combined first-trimester screening for down syndrome in Finland

American journal of perinatology, 2012-03, Vol.29 (3), p.211-216

2012

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More invasive procedures are done to detect each case of Down's syndrome in younger women: Invasive procedures in Down's screening

Acta obstetricia et gynecologica Scandinavica, 2011-06, Vol.90 (6), p.642-647

2011

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UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

American journal of medical genetics, 2004-04, Vol.126A (3), p.248-252

2004

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An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

Human genetics, 2000-07, Vol.107 (1), p.83-85

2000

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Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

American journal of human genetics, 1998-07, Vol.63 (1), p.170-180

1998

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Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor β3 subunit deletions

Annals of neurology, 2001-01, Vol.49 (1), p.110-113

2001

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Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor ?3 subunit deletions

Annals of neurology, 2001-01, Vol.49 (1), p.110-113

2001

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Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

Clinical medicine insights. Reproductive health, 2014-07, Vol.2014 (8), p.45-49

2014

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Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes

Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

Clinical first-trimester routine screening for Down syndrome in singleton pregnancies in northern Finland

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectualdisability, dysautonomia, epilepsy, and eye abnormalities (HIDEAsyndrome)

Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family

Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation

Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders

More invasive procedures are done to detect each case of Down's syndrome in younger women

False-negative results in routine combined first-trimester screening for down syndrome in Finland

More invasive procedures are done to detect each case of Down's syndrome in younger women: Invasive procedures in Down's screening

UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor β3 subunit deletions

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor ?3 subunit deletions

Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

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