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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

Human genetics, 2003-12, Vol.114 (1), p.68-76

2003

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FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

American journal of human genetics, 1996-03, Vol.58 (3), p.491-498

1996

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Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

Journal of medical genetics, 2007-01, Vol.44 (1), p.e59-e59

2007

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Hypochondroplasia

Clinical orthopaedics and related research, 1975-07, Vol.110 (110), p.249-255

1975

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Deletion from the Long Arm of Chromosome 4 (46,XX,4q—) Associated with Congenital Anomalies

Journal of medical genetics, 1973-03, Vol.10 (1), p.83-85

1973

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DNA Synthetic Capabilities of Differentiating Sperm Cells

Differentiation (London), 1977-01, Vol.8 (1), p.159-166

1977

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Developmental interrelationships of uridine uptake, nucleotide formation and incorporation into RNA by early mammalian embryos

Developmental biology, 1971-03, Vol.24 (3), p.428-442

1971

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Precursor pools and RNA synthesis in preimplantation mouse embryos

Developmental biology, 1971-12, Vol.26 (4), p.517-524

1971

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Femoral hypoplasia — unusual facies syndrome

The Journal of pediatrics, 1975, Vol.86 (1), p.107-111

1975

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Uridine transport by mouse blastocysts

Developmental biology, 1973-04, Vol.31 (2), p.316-322

1973

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Guanine metabolism in preimplantation mouse embryo

Biology of reproduction, 1971-12, Vol.5 (3), p.308-313

1971

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A new familial arthrogryposis without weakness

Neurology, 1974-01, Vol.24 (1), p.55-55

1974

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The Johanson-Blizzard syndrome: Case report and autopsy findings

American journal of medical genetics, 1979, Vol.3 (2), p.129-135

1979

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FGFR2 exon IIIa and III c mutations in Crouzon, Jackson-Weiss, and pfeiffer syndromes : Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

American journal of human genetics, 1996, Vol.58 (3), p.491-498

1996

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Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome: clinical, structural and biochemical studies

Birth defects original article series, 1978, Vol.14 (6B), p.315

1978

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Auriculoepiphyseal dysplasia (multiple epiphyseal dysplasia and anomalous auricles): clinical, structural and biochemical studies

Birth defects original article series, 1975, Vol.11 (6), p.217

1975

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Examination of core protein of proteoglycans: I. Abnormal PG in auriculoepiphyseal dysplasia

Experimental and molecular pathology, 1978-04, Vol.28 (2), p.247-255

1978

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Guanine Metabolism in Preimplantation Mouse Embryos

Biology of reproduction, 1971-12, Vol.5 (3), p.308

1971

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Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

Neurology, 1999-03, Vol.52 (5), p.1015-1015

1999

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Examination of core protein of proteoglycans

Experimental and molecular pathology, 1978-04, Vol.28 (2), p.247-255

1978

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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

Hypochondroplasia

Deletion from the Long Arm of Chromosome 4 (46,XX,4q—) Associated with Congenital Anomalies

DNA Synthetic Capabilities of Differentiating Sperm Cells

Developmental interrelationships of uridine uptake, nucleotide formation and incorporation into RNA by early mammalian embryos

Precursor pools and RNA synthesis in preimplantation mouse embryos

Femoral hypoplasia — unusual facies syndrome

Uridine transport by mouse blastocysts

Guanine metabolism in preimplantation mouse embryo

A new familial arthrogryposis without weakness

The Johanson-Blizzard syndrome: Case report and autopsy findings

FGFR2 exon IIIa and III c mutations in Crouzon, Jackson-Weiss, and pfeiffer syndromes : Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing

Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome: clinical, structural and biochemical studies

Auriculoepiphyseal dysplasia (multiple epiphyseal dysplasia and anomalous auricles): clinical, structural and biochemical studies

Examination of core protein of proteoglycans: I. Abnormal PG in auriculoepiphyseal dysplasia

Guanine Metabolism in Preimplantation Mouse Embryos

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

Examination of core protein of proteoglycans

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