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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Nature genetics, 2006-04, Vol.38 (4), p.452-457

2006

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Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2139-2151

2012

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First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.203-208

2015

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Prenatal Diagnosis: Cases and Clinical Challenges

1, 2011

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Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis

Journal of AAPOS, 2018-06, Vol.22 (3), p.240-242

2018

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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.345-353

2015

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Recombinant human β-glucuronidase enzyme replacement therapy for mucopolysaccharidosis type VII: report of the first patient treated

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S44-S44

2014

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Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4

American journal of medical genetics, 2004-05, Vol.126A (4), p.420-422

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 22 years

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 22years

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

2014

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Prenatal diagnosis: cases and clinical challenges

2010

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Mutations in the facilitative glucose transporter GLUT 10 alter angiogenesis and cause arterial tortuosity syndrome

Nature genetics, 2006, Vol.38 (4), p.452-457

2006

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Prenatal diagnosis of trisomy 4 mosaicism

American journal of medical genetics, 2000-12, Vol.95 (4), p.381-384

2000

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Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs

American journal of medical genetics, 1991-05, Vol.39 (2), p.192-195

1991

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Cytogenetic analysis of tissues from patients with familial paragangliomas of the head and neck

Head & neck, 1995-03, Vol.17 (2), p.102-107

1995

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Abnormal Ultrasound Findings

Prenatal Diagnosis, 2011, p.87-97

2011

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Fetal Infection and Teratogens

Prenatal Diagnosis, 2011, p.111-113

2011

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Mendelian Inheritance

Prenatal Diagnosis, 2011, p.22-65

2011

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First and Second Trimester Screening

Prenatal Diagnosis, 2011, p.80-86

2011

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Common Issues in Prenatal Diagnosis

Prenatal Diagnosis, 2011, p.98-110

2011

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Non-Mendelian Inheritance

Prenatal Diagnosis, 2011, p.66-79

2011

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Intro

Prenatal Diagnosis, 2011

2011

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Appendix

Prenatal Diagnosis, 2011

2011

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Cytogenetic Abnormalities

Prenatal Diagnosis, 2011, p.1-21

2011

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Keep up with Critical Fields

Prenatal Diagnosis: Cases & Clinical Challenges, 2010, p.122-122

2010

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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

Prenatal Diagnosis: Cases and Clinical Challenges

Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

Recombinant human β-glucuronidase enzyme replacement therapy for mucopolysaccharidosis type VII: report of the first patient treated

Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4

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

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

Prenatal diagnosis: cases and clinical challenges

Mutations in the facilitative glucose transporter GLUT 10 alter angiogenesis and cause arterial tortuosity syndrome

Prenatal diagnosis of trisomy 4 mosaicism

Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs

Cytogenetic analysis of tissues from patients with familial paragangliomas of the head and neck

Abnormal Ultrasound Findings

Fetal Infection and Teratogens

Mendelian Inheritance

First and Second Trimester Screening

Common Issues in Prenatal Diagnosis

Non-Mendelian Inheritance

Intro

Appendix

Cytogenetic Abnormalities

Keep up with Critical Fields

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