Volume 3, issue 1, December 2008

34 articles in this issue

Malignant mesothelioma

Authors
- Alastair J Moore
- Robert J Parker
- John Wiggins
- Content type: Review
- Open Access
- Published: 19 December 2008
- Article: 34
Incentives for orphan drug research and development in the United States

Authors (first, second and last of 4)
- Enrique Seoane-Vazquez
- Rosa Rodriguez-Monguio
- Jay Visaria
- Content type: Research
- Open Access
- Published: 16 December 2008
- Article: 33
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Authors
- Lorenzo Lo Muzio
- Content type: Review
- Open Access
- Published: 25 November 2008
- Article: 32
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

Authors (first, second and last of 4)
- Martin J Barron
- Sinead T McDonnell
- Michael J Dixon
- Content type: Review
- Open Access
- Published: 20 November 2008
- Article: 31
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

Authors
- Agatino Battaglia
- Content type: Review
- Open Access
- Published: 19 November 2008
- Article: 30
Asbestos-related pleural and lung fibrosis in patients with retroperitoneal fibrosis

Authors (first, second and last of 10)
- Toomas Uibu
- Ritva Järvenpää
- Panu Oksa
- Content type: Research
- Open Access
- Published: 13 November 2008
- Article: 29
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Authors
- Julie Desir
- Marc Abramowicz
- Content type: Review
- Open Access
- Published: 15 October 2008
- Article: 28
Transposition of the great arteries

Authors
- Paula Martins
- Eduardo Castela
- Content type: Review
- Open Access
- Published: 13 October 2008
- Article: 27
Centronuclear (myotubular) myopathy

Authors
- Heinz Jungbluth
- Carina Wallgren-Pettersson
- Jocelyn Laporte
- Content type: Review
- Open Access
- Published: 25 September 2008
- Article: 26
Mixed cryoglobulinemia

Authors
- Clodoveo Ferri
- Content type: Review
- Open Access
- Published: 16 September 2008
- Article: 25
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

Authors (first, second and last of 4)
- David Moore
- Martin J Connock
- Christine Lavery
- Content type: Research
- Open Access
- Published: 16 September 2008
- Article: 24
Monitoring clinical quality in rare disease services – experience in England

Authors
- Thomas D Kenny
- Edmund G Jessop
- William H Gutteridge
- Content type: Commentary
- Open Access
- Published: 15 September 2008
- Article: 23
Gitelman syndrome

Authors
- Nine VAM Knoers
- Elena N Levtchenko
- Content type: Review
- Open Access
- Published: 30 July 2008
- Article: 22
Alpha-mannosidosis

Authors
- Dag Malm
- Øivind Nilssen
- Content type: Review
- Open Access
- Published: 23 July 2008
- Article: 21
Cluster headache

Authors
- Elizabeth Leroux
- Anne Ducros
- Content type: Review
- Open Access
- Published: 23 July 2008
- Article: 20
Abetalipoproteinemia: two case reports and literature review

Authors (first, second and last of 4)
- Rola Zamel
- Razi Khan
- Robert A Hegele
- Content type: Case Report
- Open Access
- Published: 08 July 2008
- Article: 19
Congenital long QT syndrome

Authors (first, second and last of 4)
- Lia Crotti
- Giuseppe Celano
- Peter J Schwartz
- Content type: Review
- Open Access
- Published: 07 July 2008
- Article: 18
Acromegaly

Authors
- Philippe Chanson
- Sylvie Salenave
- Content type: Review
- Open Access
- Published: 25 June 2008
- Article: 17
Hereditary alpha-1-antitrypsin deficiency and its clinical consequences

Authors
- Laura Fregonese
- Jan Stolk
- Content type: Review
- Open Access
- Published: 19 June 2008
- Article: 16
Brachydactyly

Authors
- Samia A Temtamy
- Mona S Aglan
- Content type: Review
- Open Access
- Published: 13 June 2008
- Article: 15
Deletion 22q13.3 syndrome

Authors
- Mary C Phelan
- Content type: Review
- Open Access
- Published: 27 May 2008
- Article: 14
Leopard syndrome

Authors
- Anna Sarkozy
- Maria Cristina Digilio
- Bruno Dallapiccola
- Content type: Review
- Open Access
- Published: 27 May 2008
- Article: 13
McCune-Albright syndrome

Authors
- Claudia E Dumitrescu
- Michael T Collins
- Content type: Review
- Open Access
- Published: 19 May 2008
- Article: 12
Adaptive design methods in clinical trials – a review

Authors
- Shein-Chung Chow
- Mark Chang
- Content type: Review
- Open Access
- Published: 02 May 2008
- Article: 11
The Greig cephalopolysyndactyly syndrome

Authors
- Leslie G Biesecker
- Content type: Review
- Open Access
- Published: 24 April 2008
- Article: 10
Brown-Vialetto-Van Laere syndrome

Authors
- Sivakumar Sathasivam
- Content type: Review
- Open Access
- Published: 17 April 2008
- Article: 9
Idiopathic pulmonary fibrosis

Authors
- Eric B Meltzer
- Paul W Noble
- Content type: Review
- Open Access
- Published: 26 March 2008
- Article: 8
Hereditary sensory neuropathy type I

Authors
- Michaela Auer-Grumbach
- Content type: Review
- Open Access
- Published: 18 March 2008
- Article: 7
Syndromic (phenotypic) diarrhea in early infancy

Authors (first, second and last of 6)
- Olivier Goulet
- Christine Vinson
- Jean-Pierre Cézard
- Content type: Review
- Open Access
- Published: 28 February 2008
- Article: 6
Primary intestinal lymphangiectasia (Waldmann's disease)

Authors
- Stéphane Vignes
- Jérôme Bellanger
- Content type: Review
- Open Access
- Published: 22 February 2008
- Article: 5
Monosomy 18p

Authors
- Catherine Turleau
- Content type: Review
- Open Access
- Published: 19 February 2008
- Article: 4
Multiple osteochondromas

Authors
- Judith VMG Bovée
- Content type: Review
- Open Access
- Published: 13 February 2008
- Article: 3
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Authors (first, second and last of 6)
- Virginie Levrat
- Isabelle Forest
- Nathalie Guffon
- Content type: Case Report
- Open Access
- Published: 30 January 2008
- Article: 2
Primary biliary cirrhosis

Authors
- Teru Kumagi
- EJenny Heathcote
- Content type: Review
- Open Access
- Published: 23 January 2008
- Article: 1

Volume 3, issue 1, December 2008

Malignant mesothelioma

Incentives for orphan drug research and development in the United States

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

Asbestos-related pleural and lung fibrosis in patients with retroperitoneal fibrosis

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Transposition of the great arteries

Centronuclear (myotubular) myopathy

Mixed cryoglobulinemia

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

Monitoring clinical quality in rare disease services – experience in England

Gitelman syndrome

Alpha-mannosidosis

Cluster headache

Abetalipoproteinemia: two case reports and literature review

Congenital long QT syndrome

Acromegaly

Hereditary alpha-1-antitrypsin deficiency and its clinical consequences

Brachydactyly

Deletion 22q13.3 syndrome

Leopard syndrome

McCune-Albright syndrome

Adaptive design methods in clinical trials – a review

The Greig cephalopolysyndactyly syndrome

Brown-Vialetto-Van Laere syndrome

Idiopathic pulmonary fibrosis

Hereditary sensory neuropathy type I

Syndromic (phenotypic) diarrhea in early infancy

Primary intestinal lymphangiectasia (Waldmann's disease)

Monosomy 18p

Multiple osteochondromas

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Primary biliary cirrhosis

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