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Aplasia cutis congenita associated with a heterozygous loss‐of‐function UBA2 variant

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.792-794

2020

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Hypophosphatasia: Canadian update on diagnosis and management

Osteoporosis international, 2019-09, Vol.30 (9), p.1713-1722

2019

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Design and Analysis of MMSE Pilot-Aided Cyclic-Prefixed Block Transmissions for Doubly Selective Channels

IEEE transactions on signal processing, 2008-03, Vol.56 (3), p.1148-1160

2008

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Buschke-Ollendorff syndrome: a novel case series and systematic review

British journal of dermatology (1951), 2016-04, Vol.174 (4), p.723-729

2016

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Correction to: Hypophosphatasia: Canadian update on diagnosis and management

Osteoporosis international, 2019-07, Vol.30 (7), p.1541-1541

2019

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Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies

American journal of neuroradiology : AJNR, 2018-06, Vol.39 (6), p.1146-1152

2018

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Genotype–phenotype data from a case series of patients with mosaic neurofibromatosis type 1

British journal of dermatology (1951), 2018-11, Vol.179 (5), p.1216-1217

2018

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IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration

Clinical genetics, 2018-10, Vol.94 (3-4), p.368-372

2018

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Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis

British journal of dermatology (1951), 2017-04, Vol.176 (4), p.1077-1078

2017

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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Journal of the neurological sciences, 2015-10, Vol.357, p.e31-e31

2015

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The skeletal manifestations of the congenital disorders of glycosylation

Clinical genetics, 2008-06, Vol.73 (6), p.507-515

2008

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Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

Journal of medical genetics, 2009-02, Vol.46 (2), p.123-131

2009

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Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5

European journal of medical genetics, 2013-08, Vol.56 (8), p.452-457

2013

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Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation

Clinical genetics, 2013-02, Vol.83 (2), p.191-194

2013

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On Communication Over Unknown Sparse Frequency-Selective Block-Fading Channels

IEEE transactions on information theory, 2011-10, Vol.57 (10), p.6619-6632

2011

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Corrigendum to “Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5” [Eur J Med Genet 56 (8) (2013) 452–457]

European journal of medical genetics, 2014-02, Vol.57 (2), p.123-124

2014

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Uncommon complication of herpes simplex encephalitis

Journal of paediatrics and child health, 2004-12, Vol.40 (12), p.711-713

2004

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Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

American journal of medical genetics. Part A, 2008-02, Vol.146A (3), p.389-392

2008

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Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome

Fetal diagnosis and therapy, 2010-01, Vol.28 (2), p.117-118

2010

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Lightning-induced voltages in a satellite launch-pad protection system

IEEE transactions on electromagnetic compatibility, 2003-11, Vol.45 (4), p.644-651

2003

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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Scientific reports, 2016-07, Vol.6 (1), p.28663-28663, Article 28663

2016

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Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed

Clinical genetics, 2003-12, Vol.64 (6), p.522-523

2003

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Influence of lightning electric field components on the induced voltages on a power distribution line

Electric power systems research, 2003-03, Vol.64 (3), p.247-255

2003

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Microcephalic osteodysplastic primordial dwarfism type II: A child with café au lait lesions, cutis marmorata, and moyamoya disease

American journal of medical genetics. Part A, 2004-07, Vol.128A (1), p.98-100

2004

Volltextzugriff (PDF)

Lightning electromagnetic fields at different heights above the ground

2009 International Conference on Power Systems, 2009, p.1-5

2009

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Aplasia cutis congenita associated with a heterozygous loss‐of‐function UBA2 variant

Hypophosphatasia: Canadian update on diagnosis and management

Design and Analysis of MMSE Pilot-Aided Cyclic-Prefixed Block Transmissions for Doubly Selective Channels

Buschke-Ollendorff syndrome: a novel case series and systematic review

Correction to: Hypophosphatasia: Canadian update on diagnosis and management

Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies

Genotype–phenotype data from a case series of patients with mosaic neurofibromatosis type 1

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration

Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

The skeletal manifestations of the congenital disorders of glycosylation

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5

Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation

On Communication Over Unknown Sparse Frequency-Selective Block-Fading Channels

Corrigendum to “Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5” [Eur J Med Genet 56 (8) (2013) 452–457]

Uncommon complication of herpes simplex encephalitis

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome

Lightning-induced voltages in a satellite launch-pad protection system

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed

Influence of lightning electric field components on the induced voltages on a power distribution line

Microcephalic osteodysplastic primordial dwarfism type II: A child with café au lait lesions, cutis marmorata, and moyamoya disease

Lightning electromagnetic fields at different heights above the ground

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