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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418

2016

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Management of the risks for inherited disease in donor-conceived offspring

Fertility and sterility, 2016-11, Vol.106 (6), p.1479-1484

2016

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Chromosome 2q37 deletion: Clinical and molecular aspects

American journal of medical genetics. Part C, Seminars in medical genetics, 2007-11, Vol.145C (4), p.357-371

2007

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Genetic testing of sperm donors: survey of current practices

Fertility and sterility, 2010-06, Vol.94 (1), p.126-129

2010

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Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors

Fertility and sterility, 2010-10, Vol.94 (5), p.1912-1914

2010

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Spinal muscular atrophy (SMA) after conception using gametes from anonymous donors: recommendations for the future

Fertility and sterility, 2010-02, Vol.93 (3), p.1006.e1-1006.e2

2010

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Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals

American journal of medical genetics. Part A, 2004-11, Vol.130A (4), p.331-339

2004

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Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2282-2291

2016

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A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: Chance association or a case for pleiotropy?

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.3140-3143

2007

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Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

American journal of medical genetics. Part A, 2007-06, Vol.143A (11), p.1218-1222

2007

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Ebstein anomaly and duplication of the distal arm of chromosome 15: Report of two patients

American journal of medical genetics. Part A, 2005-12, Vol.139A (2), p.141-145

2005

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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Clinical genetics, 2014-02, Vol.85 (2), p.138-146

2014

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Quality of life related to visual function in three young adults with mucopolysaccharidoses

TheScientificWorld, 2003-10, Vol.3, p.922-929

2003

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Chromosome 2q37 Deletion : Clinical and Molecular Aspects: Subtelomeric microdeletion Syndromes

American journal of medical genetics. Part C, Seminars in medical genetics, 2007, Vol.145 (4), p.357-371

2007

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Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

American journal of medical genetics. Part A, 2007, Vol.143 (11), p.1218-1222

2007

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Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity

American journal of otolaryngology, 1997-05, Vol.18 (3), p.173-178

1997

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The ocular presentation of neurofibromatosis 2

Eye (London), 1997-01, Vol.11 (1), p.12-18

1997

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Ketonic diet in the management of pyruvate dehydrogenase deficiency

Pediatrics (Evanston), 1976-11, Vol.58 (5), p.713-721

1976

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Images of Lisch nodules across the spectrum

Eye (London), 1993-01, Vol.7 (1), p.95-101

1993

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Statement of the American College of Medical Genetics on Universal Newborn Hearing Screening

Genetics in medicine, 2000-03, Vol.2 (2), p.149-150

2000

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Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease)

Ophthalmic genetics, 2000, Vol.21 (1), p.17-20

2000

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Prenatal identification of i(YP) by molecular cytogenetic analysis

Prenatal diagnosis, 1995-12, Vol.15 (12), p.1115-1119

1995

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Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease)

Ophthalmic genetics, 2000-03, Vol.21 (1), p.17-20

2000

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Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis

American journal of diseases of children (1960), 1985-01, Vol.139 (1), p.57

1985

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Trisomy 12 mosaicism

Prenatal diagnosis, 1991-11, Vol.11 (11), p.881-881

1991

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Management of the risks for inherited disease in donor-conceived offspring

Chromosome 2q37 deletion: Clinical and molecular aspects

Genetic testing of sperm donors: survey of current practices

Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors

Spinal muscular atrophy (SMA) after conception using gametes from anonymous donors: recommendations for the future

Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals

Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size

A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: Chance association or a case for pleiotropy?

Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

Ebstein anomaly and duplication of the distal arm of chromosome 15: Report of two patients

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Quality of life related to visual function in three young adults with mucopolysaccharidoses

Chromosome 2q37 Deletion : Clinical and Molecular Aspects: Subtelomeric microdeletion Syndromes

Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity

The ocular presentation of neurofibromatosis 2

Ketonic diet in the management of pyruvate dehydrogenase deficiency

Images of Lisch nodules across the spectrum

Statement of the American College of Medical Genetics on Universal Newborn Hearing Screening

Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease)

Prenatal identification of i(YP) by molecular cytogenetic analysis

Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease)

Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis

Trisomy 12 mosaicism

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