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Classification of Osteogenesis Imperfecta revisited

European journal of medical genetics, 2010-01, Vol.53 (1), p.1-5

2010

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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

European journal of medical genetics, 2017-09, Vol.60 (9), p.465-473

2017

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A de novo mutation in ZMYND11 , a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

European journal of medical genetics, 2014-11, Vol.57 (11), p.636-638

2014

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Survival in SMA type I: A prospective analysis of 34 consecutive cases

Neuromuscular disorders : NMD, 2008-07, Vol.18 (7), p.541-544

2008

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P628: Electrophysiological data of DSMA1 patients in the Netherlands

Clinical neurophysiology, 2014-06, Vol.125, p.S219-S219

2014

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Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

Neurology, 2001-03, Vol.56 (6), p.749

2001

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PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

The Lancet (British edition), 1995-04, Vol.345 (8955), p.985-986

1995

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Compound-heterozygous Marfan syndrome

European journal of medical genetics, 2009-01, Vol.52 (1), p.1-5

2009

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Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features

European journal of medical genetics, 2011-05, Vol.54 (3), p.284-286

2011

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Kinder Genetica AMC

Tijdschrift voor kindergeneeskunde, 2013-02, Vol.81 (Suppl 1), p.133-134

Cobben, J.M.

2013

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Osteogenesis Imperfecta: A Review with Clinical Examples

Molecular syndromology, 2011-12, Vol.2 (1), p.1-20

2011

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Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

Human mutation, 1999, Vol.13 (4), p.301-310

1999

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Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1517-1519

2013

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SMN gene deletion in variant of infantile spinal muscular atrophy

The Lancet (British edition), 1995-07, Vol.346 (8970), p.316-317

1995

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A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

European journal of medical genetics, 2012-01, Vol.55 (1), p.17-21

2012

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A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

European journal of medical genetics, 2012-01, Vol.55 (1), p.17-21

2012

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Novel KCNQ1 and HERG missense mutations in Dutch long‐QT families

Human mutation, 1999, Vol.13 (4), p.301-310

1999

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First Trimester Diagnosis of Split Hand/Foot by Transvaginal Ultrasound

Fetal diagnosis and therapy, 2001-05, Vol.16 (3), p.146-149

2001

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On the many faces of Leber hereditary optic neuropathy

Clinical genetics, 1997-06, Vol.51 (6), p.388-393

1997

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O-144. Development of preimplantation genetic diagnosis of spinal muscular atrophy

Human reproduction (Oxford), 1997-06, Vol.12 (Suppl_2), p.70-70

1997

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Identification of Key Recombinants in Multiplex SMA Families

Genomics (San Diego, Calif.), 1994-07, Vol.22 (1), p.219-222

1994

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SMN2 deletion in childhood-onset spinal muscular atrophy

American journal of medical genetics, 2002-05, Vol.109 (3), p.246-246

2002

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Karsch-Neugebauer syndrome in two sibs with unaffected parents

American journal of medical genetics, 1998-01, Vol.75 (2), p.207-210

1998

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Starting HMV at home: a reasonable option for many patients?

BMC pulmonary medicine, 2022-11, Vol.22 (1), p.1-410, Article 410

2022

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A Randomized Trial of Initiation of Chronic Noninvasive Mechanical Ventilation at Home vs In-Hospital in Patients With Neuromuscular Disease and Thoracic Cage Disorder: The Dutch Homerun Trial

Chest, 2020-12, Vol.158 (6), p.2493-2501

2020

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Classification of Osteogenesis Imperfecta revisited

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

A de novo mutation in ZMYND11 , a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

Survival in SMA type I: A prospective analysis of 34 consecutive cases

P628: Electrophysiological data of DSMA1 patients in the Netherlands

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

Compound-heterozygous Marfan syndrome

Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features

Kinder Genetica AMC

Osteogenesis Imperfecta: A Review with Clinical Examples

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice

SMN gene deletion in variant of infantile spinal muscular atrophy

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

Novel KCNQ1 and HERG missense mutations in Dutch long‐QT families

First Trimester Diagnosis of Split Hand/Foot by Transvaginal Ultrasound

On the many faces of Leber hereditary optic neuropathy

O-144. Development of preimplantation genetic diagnosis of spinal muscular atrophy

Identification of Key Recombinants in Multiplex SMA Families

SMN2 deletion in childhood-onset spinal muscular atrophy

Karsch-Neugebauer syndrome in two sibs with unaffected parents

Starting HMV at home: a reasonable option for many patients?

A Randomized Trial of Initiation of Chronic Noninvasive Mechanical Ventilation at Home vs In-Hospital in Patients With Neuromuscular Disease and Thoracic Cage Disorder: The Dutch Homerun Trial

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