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Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly

American journal of human genetics, 2006-07, Vol.79 (1), p.155-162

2006

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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

Journal of medical genetics, 2003-09, Vol.40 (9), p.709-713

2003

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The clinical utility of MRI in patients with neurodevelopmental disorders of unknown origin

European journal of neurology, 2010-06, Vol.17 (6), p.815-822

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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Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

Clinical genetics, 2003-03, Vol.63 (3), p.224-227

2003

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Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy

Nature genetics, 1998-09, Vol.20 (1), p.96-98

1998

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Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

Prenatal diagnosis, 2005-02, Vol.25 (2), p.151-155

2005

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Mitochondrial dysfunction in a patient with Joubert syndrome

Neuropediatrics, 2005-06, Vol.36 (3), p.214

2005

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Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome

Journal of medical genetics, 2000-04, Vol.37 (4), p.303-307

2000

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KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies

Cilia (London), 2015-07, Vol.4 (S1), p.P50-P50, Article P50

2015

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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

European journal of human genetics : EJHG, 2010-08, Vol.18 (8), p.872-880

2010

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Early‐onset renal cell cancer and bilateral epididymal cysts as presenting symptoms of von Hippel‐Lindau disease

British Journal of Urology, 1998-06, Vol.81 (6), p.915-915

1998

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Two cases of the caudal duplication anomaly including a discordant monozygotic twin

American journal of medical genetics, 2002-11, Vol.112 (4), p.390-393

2002

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Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)

Journal of medical genetics, 1994-02, Vol.31 (2), p.156-158

1994

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Mitochondrial Dysfunction in a Patient with Joubert Syndrome

Neuropediatrics, 2005-06, Vol.36 (3), p.214-217

2005

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Is There an Association between Maternal Carbamazepine Use during Pregnancy and Eye Malformations in the Child?

Epilepsia (Copenhagen), 2002-08, Vol.43 (8), p.929-931

2002

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Het syndroom van Joubert: beschrijving, diagnostiek en begeleiding

Tijdschrift voor kindergeneeskunde, 2007-08, Vol.75 (4), p.166-170

2007

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Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships

American journal of medical genetics, 2004-06, Vol.127A (2), p.172-182

2004

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Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex‐linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

American journal of medical genetics. Part A, 2005-06, Vol.135A (3), p.297-301

2005

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Gene symbol: SALL1

Human genetics, 1999-05, Vol.104 (4), p.C360-C360

1999

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Renal defects and limb deficiencies in 197 infants: Is it possible to define the "acrorenal syndrome"?

American journal of medical genetics, 2004-08, Vol.129A (2), p.149-155

2004

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Carrier detection in cystic fibrosis. Various illustrative examples

Tijdschrift voor kindergeneeskunde, 1992-12, Vol.60 (6), p.226-230

1992

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Plant interactions with multiple insect herbivores: from community to genes

Annual review of plant biology, 2014-01, Vol.65 (1), p.689-713

2014

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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American journal of human genetics, 2019-08, Vol.105 (2), p.403-412

2019

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Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

Proceedings of the National Academy of Sciences - PNAS, 2014-07, Vol.111 (27), p.9893-9898

2014

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Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

The clinical utility of MRI in patients with neurodevelopmental disorders of unknown origin

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

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy

Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

Mitochondrial dysfunction in a patient with Joubert syndrome

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome

KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Early‐onset renal cell cancer and bilateral epididymal cysts as presenting symptoms of von Hippel‐Lindau disease

Two cases of the caudal duplication anomaly including a discordant monozygotic twin

Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32)

Mitochondrial Dysfunction in a Patient with Joubert Syndrome

Is There an Association between Maternal Carbamazepine Use during Pregnancy and Eye Malformations in the Child?

Het syndroom van Joubert: beschrijving, diagnostiek en begeleiding

Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex‐linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

Gene symbol: SALL1

Renal defects and limb deficiencies in 197 infants: Is it possible to define the "acrorenal syndrome"?

Carrier detection in cystic fibrosis. Various illustrative examples

Plant interactions with multiple insect herbivores: from community to genes

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

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