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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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Prenatal detection of chromosome 20 variants (20ph+, 20ps)

Prenatal diagnosis, 1996-08, Vol.16 (8), p.771

1996

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In utero detection of fetal cataracts

Journal of ultrasound in medicine, 1993-04, Vol.12 (4), p.234-236

1993

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Twistor Theory for Riemannian Symmetric Spaces: With Applications to Harmonic Maps of Riemann Surfaces

1990 edition., 2006

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Triploidy: Pregnancy complications and clinical findings in seven cases

Prenatal diagnosis, 1989-06, Vol.9 (6), p.409-419

1989

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Autosomal dominant familial spastic paraplegia: report of a large New England family

Clinical genetics, 1990-07, Vol.38 (1), p.57-68

1990

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Tetrasomy 9p syndrome

Annales de génétique, 1995, Vol.38 (1), p.54

1995

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Confirmation of xeroradiography as an important postmortem fetal diagnostic technique

American journal of obstetrics and gynecology, 1985-10, Vol.153 (3), p.347-347

1985

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Enhanced visualization of soft tissues in the study of aborted fetuses through the use of xeroradiography

Teratology (Philadelphia), 1984-08, Vol.30 (1), p.11-24

1984

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The Philadelphia variant of galactokinase

American journal of human genetics, 1977-05, Vol.29 (3), p.240-247

1977

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Proposal Writing Made Palatable

NASSP bulletin, 1979-04, Vol.63 (426), p.60-66

Rawnsley, David E.

1979

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Galactose tolerance studies of individuals with reduced galactose pathway activity

American journal of human genetics, 1975-11, Vol.27 (6), p.748-754

1975

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LETTERS TO THE EDITOR. PRENATAL DETECTION OF CHROMOSOME 20 VARIANTS (20PH+, 20PS)

Prenatal diagnosis, 1996-08, Vol.16 (8), p.771-774

1996

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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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DOG WHIPPER AND SLUGGARD WAKER

Notes and queries, 1960-11, Vol.7 (11), p.434-c-434

RAWNSLEY, JOHN E.

1960

Volltextzugriff (PDF)

Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn

Prenatal diagnosis, 1989-07, Vol.9 (7), p.501-504

1989

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Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia

Prenatal diagnosis, 1987-11, Vol.7 (9), p.631-638

1987

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Bilateral renal agenesis in three consecutive siblings

Prenatal diagnosis, 1987-10, Vol.7 (8), p.573-579

1987

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Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey

American journal of human genetics, 1975-11, Vol.27 (6), p.737-747

1975

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Proposal Writing Made Palatable

NASSP Bulletin, 1979-04, Vol.63 (426), p.60

Rawnsley, David E

1979

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Defining Transcriptional Signatures of Human Hair Follicle Cell States

Journal of investigative dermatology, 2020-04, Vol.140 (4), p.764-773.e4

2020

Volltextzugriff (PDF)

Developments in Information/Dissemination, 1977-1979. The-State-of-the-Art

Rawnsley, David E

1979

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Prenatal detection of chromosome 20 variants (20ph+, 20ps)

Prenatal diagnosis, 1996, Vol.16 (8), p.771-774

1996

Volltextzugriff (PDF)

Parent screening questionnaires to detect cognitive and language delay at 2 years in high-risk infants: an analysis from the Victorian Infant Collaborative Study 2016–2017 cohort

Archives of disease in childhood. Fetal and neonatal edition, 2024-04, p.fetalneonatal-2023-326618

2024

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Brodalumab: 5-Year US Pharmacovigilance Report

Dermatology and therapy, 2024-05, Vol.14 (5), p.1349-1357

2024

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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

Prenatal detection of chromosome 20 variants (20ph+, 20ps)

In utero detection of fetal cataracts

Twistor Theory for Riemannian Symmetric Spaces: With Applications to Harmonic Maps of Riemann Surfaces

Triploidy: Pregnancy complications and clinical findings in seven cases

Autosomal dominant familial spastic paraplegia: report of a large New England family

Tetrasomy 9p syndrome

Confirmation of xeroradiography as an important postmortem fetal diagnostic technique

Enhanced visualization of soft tissues in the study of aborted fetuses through the use of xeroradiography

The Philadelphia variant of galactokinase

Proposal Writing Made Palatable

Galactose tolerance studies of individuals with reduced galactose pathway activity

LETTERS TO THE EDITOR. PRENATAL DETECTION OF CHROMOSOME 20 VARIANTS (20PH+, 20PS)

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

DOG WHIPPER AND SLUGGARD WAKER

Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn

Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia

Bilateral renal agenesis in three consecutive siblings

Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey

Proposal Writing Made Palatable

Defining Transcriptional Signatures of Human Hair Follicle Cell States

Developments in Information/Dissemination, 1977-1979. The-State-of-the-Art

Prenatal detection of chromosome 20 variants (20ph+, 20ps)

Parent screening questionnaires to detect cognitive and language delay at 2 years in high-risk infants: an analysis from the Victorian Infant Collaborative Study 2016–2017 cohort

Brodalumab: 5-Year US Pharmacovigilance Report

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