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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643

2011

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Neuromuscular involvement in various types of Ehlers-Danlos syndrome

Annals of neurology, 2009-06, Vol.65 (6), p.687-697

2009

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X-linked mental retardation

Nature reviews. Genetics, 2005-01, Vol.6 (1), p.46-57

2005

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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Nature genetics, 2009-07, Vol.41 (7), p.829-832

2009

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Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

American journal of human genetics, 2007-09, Vol.81 (3), p.507-518

2007

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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

Journal of medical genetics, 2012-03, Vol.49 (3), p.179-183

2012

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Nature genetics, 2004-09, Vol.36 (9), p.955-957

2004

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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.370-377

2006

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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

American journal of human genetics, 2004-03, Vol.74 (3), p.552-557

2004

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Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

American journal of medical genetics. Part A, 2006-11, Vol.140A (22), p.2387-2393

2006

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Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

American journal of human genetics, 2002-12, Vol.71 (6), p.1450-1455

2002

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Structural variation in Xq28 : MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

European journal of human genetics : EJHG, 2009-04, Vol.17 (4), p.444-453

2009

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Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Pediatric neurology, 2009-09, Vol.41 (3), p.187-191

2009

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Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Neurogenetics, 2008-07, Vol.9 (3), p.183-190

2008

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The clinical spectrum of complete FBN1 allele deletions

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.247-252

2011

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Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

American journal of human genetics, 2004-06, Vol.74 (6), p.1239-1248

2004

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ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

American journal of human genetics, 2006-02, Vol.78 (2), p.265-278

2006

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Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Journal of medical genetics, 2011-12, Vol.48 (12), p.810-818

2011

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Mutations in MED12 Cause X-Linked Ohdo Syndrome

American journal of human genetics, 2013-03, Vol.92 (3), p.401-406

2013

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Fibrillin-1 staining anomalies are associated with increased staining for TGF-β and elastic fibre degradation; new clues to the pathogenesis of emphysema

The Journal of pathology, 2009-08, Vol.218 (4), p.446-457

2009

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Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

Gene, 2012-12, Vol.511 (2), p.451-454

2012

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Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

Case reports in genetics, 2017-01, Vol.2017, p.2348045-4

2017

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Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome

European journal of human genetics : EJHG, 2007-09, Vol.15 (9), p.930-935

2007

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Ellis‐van Creveld syndrome in a patient from Tanzania

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2034-2038

2019

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Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.760-766

2009

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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

X-linked mental retardation

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

Structural variation in Xq28 : MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

The clinical spectrum of complete FBN1 allele deletions

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Fibrillin-1 staining anomalies are associated with increased staining for TGF-β and elastic fibre degradation; new clues to the pathogenesis of emphysema

Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome

Ellis‐van Creveld syndrome in a patient from Tanzania

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

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