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Three new families with arterial tortuosity syndrome

American journal of medical genetics, 2004-12, Vol.131A (2), p.134-143

2004

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Prenatal diagnosis of boomerang dysplasia

American journal of medical genetics, 2003-10, Vol.122A (2), p.148-154

2003

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Fryns syndrome without diaphragmatic hernia?

American journal of medical genetics, 1991-11, Vol.41 (2), p.255-257

1991

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Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez

American journal of medical genetics, 2002-11, Vol.113 (1), p.97-100

2002

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Long-term potentiation in the hippocampus of fragile X knockout mice

American journal of medical genetics, 1996-08, Vol.64 (2), p.246-251

1996

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Fucosidosis revisited: A review of 77 patients

American journal of medical genetics, 1991-01, Vol.38 (1), p.111-131

1991

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Transgenic mouse model for the fragile X syndrome

American journal of medical genetics, 1996-08, Vol.64 (2), p.241-245

1996

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Unexpected life-threatening complications in Kabuki syndrome

American journal of medical genetics, 2000-09, Vol.94 (2), p.170-173

2000

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Postmortem examination of two fragile X brothers with an FMR1 full mutation

American journal of medical genetics, 1999-05, Vol.84 (3), p.245-249

1999

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The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

American journal of medical genetics, 1996-07, Vol.64 (1), p.73-77

1996

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CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation

American journal of medical genetics, 1999-07, Vol.85 (3), p.209-213

1999

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Postmortem examination of two fragile X brothers with an FMR1 full mutation: X-linked mental retardation. Part II

American journal of medical genetics, 1999, Vol.84 (3), p.245-249

1999

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Multiple pterygium syndrome with body asymmetry

American journal of medical genetics, 1993-08, Vol.47 (1), p.106-111

1993

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Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24

American journal of medical genetics, 1993-02, Vol.45 (4), p.450-455

1993

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Eighth International Workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997

American journal of medical genetics, 1999-04, Vol.83 (4), p.221-236

1999

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Severe mental retardation and macroorchidism without mutation in the FMR1 gene

American journal of medical genetics, 1996-08, Vol.64 (2), p.408-412

1996

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Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation

American journal of medical genetics, 2003, Vol.116A (2), p.147-151

2003

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The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule: X-Linked mental retardation. Part I

American journal of medical genetics, 1996, Vol.64 (1), p.73-77

1996

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Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial angelman syndrome

American journal of medical genetics, 1992-09, Vol.44 (2), p.256-260

1992

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Two brothers with mental retardation discordant for the Fragile-X syndrome

American journal of medical genetics, 1990-05, Vol.36 (1), p.122-125

1990

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Autosomal dominant inheritance of left ventricular outflow tract obstruction

American journal of medical genetics, 2005, Vol.134A (2), p.171-179

2005

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CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation: X-Linked Mental Retardation. Part III

American journal of medical genetics, 1999, Vol.85 (3), p.209-213

1999

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Severe mental retardation and macroorchidism without mutation in the FMR1 gene: X-Linked mental retardation. Part II

American journal of medical genetics, 1996, Vol.64 (2), p.408-412

1996

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Transgenic mouse model for the fragile X syndrome: X-Linked mental retardation. Part II

American journal of medical genetics, 1996, Vol.64 (2), p.241-245

1996

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Long-term potentiation in the hippocampus of fragile X knockout mice: X-Linked mental retardation. Part II

American journal of medical genetics, 1996, Vol.64 (2), p.246-251

1996

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Three new families with arterial tortuosity syndrome

Prenatal diagnosis of boomerang dysplasia

Fryns syndrome without diaphragmatic hernia?

Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez

Long-term potentiation in the hippocampus of fragile X knockout mice

Fucosidosis revisited: A review of 77 patients

Transgenic mouse model for the fragile X syndrome

Unexpected life-threatening complications in Kabuki syndrome

Postmortem examination of two fragile X brothers with an FMR1 full mutation

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation

Postmortem examination of two fragile X brothers with an FMR1 full mutation: X-linked mental retardation. Part II

Multiple pterygium syndrome with body asymmetry

Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24

Eighth International Workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997

Severe mental retardation and macroorchidism without mutation in the FMR1 gene

Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule: X-Linked mental retardation. Part I

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial angelman syndrome

Two brothers with mental retardation discordant for the Fragile-X syndrome

Autosomal dominant inheritance of left ventricular outflow tract obstruction

CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation: X-Linked Mental Retardation. Part III

Severe mental retardation and macroorchidism without mutation in the FMR1 gene: X-Linked mental retardation. Part II

Transgenic mouse model for the fragile X syndrome: X-Linked mental retardation. Part II

Long-term potentiation in the hippocampus of fragile X knockout mice: X-Linked mental retardation. Part II

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