Found: 58
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Mucopolysaccharidosis VI.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Niemann-Pick disease type C.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Rothmund-Thomson syndrome.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Hereditary combined deficiency of the vitamin K-dependent clotting factors.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Silver-Russell syndrome: genetic basis and molecular genetic testing.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Congenital hypothyroidism.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Interstitial lung diseases in children.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Beta-thalassemia.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Inherited epidermolysis bullosa.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Alpha-thalassaemia.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism.
- Published in:
- 2010
- By:
- Publication type:
- journal article
A review of trisomy X (47,XXX).
- Published in:
- 2010
- By:
- Publication type:
- journal article
Huntington's disease: a clinical review.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Toxic epidermal necrolysis and Stevens-Johnson syndrome.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Fabry disease.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Acro-cardio-facial syndrome.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Huntington's disease: a clinical review.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 40, doi. 10.1186/1750-1172-5-40
- By:
- Publication type:
- Article
Toxic epidermal necrolysis and Stevens-Johnson syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 39, doi. 10.1186/1750-1172-5-39
- By:
- Publication type:
- Article
The Schnitzler syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 38, doi. 10.1186/1750-1172-5-38
- By:
- Publication type:
- Article
In vivo effects of antibodies from patients with anti-NMDA receptor encephalitis: further evidence of synaptic glutamatergic dysfunction.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 31, doi. 10.1186/1750-1172-5-31
- By:
- Publication type:
- Article
Fabry disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 30, doi. 10.1186/1750-1172-5-30
- By:
- Publication type:
- Article
Wolcott-Rallison syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 29, doi. 10.1186/1750-1172-5-29
- By:
- Publication type:
- Article
Dent's disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 28, doi. 10.1186/1750-1172-5-28
- By:
- Publication type:
- Article
Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 33, doi. 10.1186/1750-1172-5-33
- By:
- Publication type:
- Article
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 36, doi. 10.1186/1750-1172-5-36
- By:
- Publication type:
- Article
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 35, doi. 10.1186/1750-1172-5-35
- By:
- Publication type:
- Article
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 32, doi. 10.1186/1750-1172-5-32
- By:
- Publication type:
- Article
The diagnosis of inherited metabolic diseases by microarray gene expression profiling.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 34, doi. 10.1186/1750-1172-5-34
- By:
- Publication type:
- Article
A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 27, doi. 10.1186/1750-1172-5-27
- By:
- Publication type:
- Article
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Acro-cardio-facial syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 25, doi. 10.1186/1750-1172-5-25
- By:
- Publication type:
- Article
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 24, doi. 10.1186/1750-1172-5-24
- By:
- Publication type:
- Article
Bleeding disorders in the tribe: result of consanguineous in breeding.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 23, doi. 10.1186/1750-1172-5-23
- By:
- Publication type:
- Article
Interstitial lung diseases in children.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 22, doi. 10.1186/1750-1172-5-22
- By:
- Publication type:
- Article
Hereditary combined deficiency of the vitamin K-dependent clotting factors.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 21, doi. 10.1186/1750-1172-5-21
- By:
- Publication type:
- Article
Joubert Syndrome and related disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 20, doi. 10.1186/1750-1172-5-20
- By:
- Publication type:
- Article
Silver-Russell syndrome: genetic basis and molecular genetic testing.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 19, doi. 10.1186/1750-1172-5-19
- By:
- Publication type:
- Article
Rituximab ameliorated severe hearing loss in Cogan's syndrome: a case report.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Congenital hypothyroidism.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 16, doi. 10.1186/1750-1172-5-16
- By:
- Publication type:
- Article
Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 10, doi. 10.1186/1750-1172-5-10
- By:
- Publication type:
- Article
Diagnosis and mortality in 47,XYY persons: a registry study.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 15, doi. 10.1186/1750-1172-5-15
- By:
- Publication type:
- Article
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 14, doi. 10.1186/1750-1172-5-14
- By:
- Publication type:
- Article
α-thalassaemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 13, doi. 10.1186/1750-1172-5-13
- By:
- Publication type:
- Article
Inherited epidermolysis bullosa.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 12, doi. 10.1186/1750-1172-5-12
- By:
- Publication type:
- Article
Beta-thalassemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 11, doi. 10.1186/1750-1172-5-11
- By:
- Publication type:
- Article
Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 9, doi. 10.1186/1750-1172-5-9
- By:
- Publication type:
- Article