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Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

Clinical genetics, 2013-10, Vol.84 (4), p.392-393

2013

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Intergenerational effects on size at birth in South India

Paediatric and perinatal epidemiology, 2004-09, Vol.18 (5), p.361-370

2004

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Molecular systematics of Solanum section Lycopersicum (Lycopersicon) using the nuclear ITS rDNA region

Theoretical and applied genetics, 2001-12, Vol.103 (8), p.1216-1222

2001

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Genome size and karyotype evolution in the slipper orchids (Cypripedioideae: Orchidaceae)

American journal of botany, 1998-05, Vol.85 (5), p.681-687

1998

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Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q

Cytogenetic and genome research, 2002-01, Vol.98 (1), p.9-12

2002

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Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation

American journal of human genetics, 1994-08, Vol.55 (2), p.253-265

1994

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l‐2‐Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal death

Journal of inherited metabolic disease, 1996-01, Vol.19 (3), p.335-343

1996

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Molecular systematics of Iridaceae: evidence from four plastid DNA regions

American journal of botany, 2001-11, Vol.88 (11), p.2074-2087

2001

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An age-related ovarian phenotype in mice with targeted disruption of the Cyp 19 (aromatase) gene

Endocrinology (Philadelphia), 2000-07, Vol.141 (7), p.2614-2623

2000

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Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: Identification of a candidate region for CFC syndrome

American journal of medical genetics, 2000-07, Vol.93 (3), p.219-222

2000

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Growth hormone stimulates galactopoiesis in healthy lactating women

Acta endocrinologica (Copenhagen), 1992-10, Vol.127 (4), p.337-343

1992

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Use of the polymerase chain reaction to detect spacer size heterogeneity in plant 5S-rRNA gene clusters and to locate such clusters in wheat (Triticum aestivum L.)

Theoretical and applied genetics, 1992-04, Vol.83 (6-7), p.684-690

1992

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Comparison of Plant Telomere Locations using a PCR-generated Synthetic Probe

Annals of botany, 1993-09, Vol.72 (3), p.239-247

1993

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Assessing Physical Activity in Older People: Findings from the Hertfordshire Cohort Study

The open geriatric medicine journal, 2009-01, Vol.1 (1), p.43-49

2009

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DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project

PLoS biology, 2004-12, Vol.2 (12), p.e405

2004

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Adjuvant adenoidectomy in persistent bilateral otitis media with effusion: hearing and revision surgery outcomes through 2 years in the TARGET randomised trial

Clinical otolaryngology, 2012-04, Vol.37 (2), p.107-116

MRC Multicentre Otitis Media Study Group

2012

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Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review

American journal of medical genetics, 1998-09, Vol.79 (3), p.215-225

1998

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Molecular Systematics, GISH and the Origin of Hybrid Taxa in Nicotiana (Solanaceae)

Annals of botany, 2003-07, Vol.92 (1), p.107-127

2003

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The Ensembl Web site: mechanics of a genome browser

Genome research, 2004-05, Vol.14 (5), p.951-955

2004

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Severe congenital anomalies requiring transplantation in children with Kabuki syndrome

American journal of medical genetics, 1998-12, Vol.80 (4), p.362-367

1998

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Scottish Gaelic Studies

Year's work in modern language studies, 2012-01, Vol.72 (1), p.352-358

Cox, Richard A. V

2012

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Scottish Gaelic Studies

Year's work in modern language studies, 2011-12, Vol.71 (1), p.555-563

Cox, Richard A. V

2011

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Simpson-Golabi-Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case

American journal of medical genetics, 1993-06, Vol.46 (5), p.574-578

1993

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True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities

American journal of medical genetics, 1997-10, Vol.72 (3), p.343-346

1997

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Pallister-Hall syndrome associated with an unbalanced chromosome translocation

American journal of medical genetics, 1992-06, Vol.43 (3), p.647-650

1992

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Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

Intergenerational effects on size at birth in South India

Molecular systematics of Solanum section Lycopersicum (Lycopersicon) using the nuclear ITS rDNA region

Genome size and karyotype evolution in the slipper orchids (Cypripedioideae: Orchidaceae)

Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q

Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation

l‐2‐Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal death

Molecular systematics of Iridaceae: evidence from four plastid DNA regions

An age-related ovarian phenotype in mice with targeted disruption of the Cyp 19 (aromatase) gene

Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: Identification of a candidate region for CFC syndrome

Growth hormone stimulates galactopoiesis in healthy lactating women

Use of the polymerase chain reaction to detect spacer size heterogeneity in plant 5S-rRNA gene clusters and to locate such clusters in wheat (Triticum aestivum L.)

Comparison of Plant Telomere Locations using a PCR-generated Synthetic Probe

Assessing Physical Activity in Older People: Findings from the Hertfordshire Cohort Study

DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project

Adjuvant adenoidectomy in persistent bilateral otitis media with effusion: hearing and revision surgery outcomes through 2 years in the TARGET randomised trial

Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review

Molecular Systematics, GISH and the Origin of Hybrid Taxa in Nicotiana (Solanaceae)

The Ensembl Web site: mechanics of a genome browser

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome

Scottish Gaelic Studies

Scottish Gaelic Studies

Simpson-Golabi-Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case

True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities

Pallister-Hall syndrome associated with an unbalanced chromosome translocation

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