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Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

American journal of human genetics, 2012-02, Vol.90 (2), p.356-362

2012

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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

American journal of human genetics, 2005-07, Vol.77 (1), p.41-53

2005

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Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

Journal of hepatology, 2013-06, Vol.58 (6), p.1230-1243

2013

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Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

Molecular genetics and metabolism, 2010-10, Vol.101 (2-3), p.130-133

2010

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Nature genetics, 2004-04, Vol.36 (4), p.405-410

2004

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PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Nature genetics, 2015-06, Vol.47 (6), p.647-653

2015

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Duane syndrome in association with 48,XXYY karyotype

Journal of AAPOS, 2011-06, Vol.15 (3), p.295-296

2011

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Prenatal sonographic findings in a case of Wolman's disease

Journal of clinical ultrasound, 2018-01, Vol.46 (1), p.66-68

2018

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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

Prenatal diagnosis, 2008-11, Vol.28 (11), p.993-998

2008

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Human mutation, 2015-11, Vol.36 (11), p.1052-1063

2015

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Stroke in Children: Genetic and Metabolic Issues

Journal of child neurology, 2000-05, Vol.15 (5), p.308-315

2000

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Nature genetics, 2004-04, Vol.36 (4), p.405-410

2004

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Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22years

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S25-S26

2014

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Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22 years

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S25-S26

2014

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Progression of cardiac disease in emery‐dreifuss muscular dystrophy

Clinical cardiology (Mahwah, N.J.), 1991-05, Vol.14 (5), p.411-416

1991

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Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families

American journal of medical genetics, 1998-12, Vol.80 (4), p.377-384

1998

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Sonographic and DNA‐based prenatal detection of Gorlin syndrome

Journal of ultrasound in medicine, 1996-06, Vol.15 (6), p.493-495

1996

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Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos Syndrome

Journal of vascular surgery, 1998-03, Vol.27 (3), p.549-551

1998

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PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

Prenatal diagnosis, 1996-02, Vol.16 (2), p.117-124

1996

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Prenatal diagnosis of Gorlin syndrome

The Lancet (British edition), 1994-08, Vol.344 (8920), p.477-477

1994

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Prenatal diagnosis of thrombocytopenia in TAR syndrome

Prenatal diagnosis, 1994-01, Vol.14 (1), p.74-75

Bialer, Martin G.

1994

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Prenatal sonographic findings in a case of Wolman's disease

Journal of clinical ultrasound : JCU, 2018, Vol.46 (1), p.66-68

2018

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Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns

Prenatal diagnosis, 1994-10, Vol.14 (10), p.933-940

1994

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Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Duane syndrome in association with 48,XXYY karyotype

Prenatal sonographic findings in a case of Wolman's disease

Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Stroke in Children: Genetic and Metabolic Issues

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22years

Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22 years

Recurrent HERV-H-Mediated 3q13.2q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

Progression of cardiac disease in emery‐dreifuss muscular dystrophy

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families

Sonographic and DNA‐based prenatal detection of Gorlin syndrome

Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos Syndrome

PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

Prenatal diagnosis of Gorlin syndrome

Prenatal diagnosis of thrombocytopenia in TAR syndrome

Prenatal sonographic findings in a case of Wolman's disease

Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns

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