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Li-Fraumeni syndrome: A case report.
- Published in:
- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2014, v. 71, n. 12, p. 1159, doi. 10.2298/VSP1412159I
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- Article
Prevalence of hereditary angioedema in untested first-degree blood relatives of known subjects with hereditary angioedema.
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- Allergy & Asthma Proceedings, 2015, v. 36, n. 3, p. 206, doi. 10.2500/aap.2015.36.3833
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- Publication type:
- Article
Early development of children at familial risk for Dyslexia—follow-up from birth to school age.
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- Dyslexia (10769242), 2004, v. 10, n. 3, p. 146, doi. 10.1002/dys.274
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- Publication type:
- Article
A rare presentation of keratosis follicularis spinulosa decalvans in female twins.
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- 2018
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- Publication type:
- Case Study
Familial eyelash trichomegaly: The case of a sister and a brother.
- Published in:
- 2016
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- Publication type:
- Case Study
Familial congenital generalized hypertrichosis.
- Published in:
- 2013
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- Publication type:
- Letter to the Editor
Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings.
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- Indian Journal of Dermatology, Venereology & Leprology, 2013, v. 79, n. 1, p. 88, doi. 10.4103/0378-6323.104675
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- Publication type:
- Article
Familial leiomyomatosis cutis affecting nine family members in two successive generations including four cases of Reed's syndrome.
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- Indian Journal of Dermatology, Venereology & Leprology, 2013, v. 79, n. 1, p. 83, doi. 10.4103/0378-6323.104674
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- Publication type:
- Article
D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome.
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- Indian Journal of Dermatology, Venereology & Leprology, 2012, v. 78, n. 5, p. 640, doi. 10.4103/0378-6323.100595
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- Article
Progressive symmetric erythrokeratoderma: Report of a Chinese family.
- Published in:
- 2011
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- Publication type:
- Case Study
Angel's kiss in three generations.
- Published in:
- 2010
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- Publication type:
- Case Study
Familial anterior cervical hypertrichosis.
- Published in:
- 2010
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- Publication type:
- Case Study
Leonine facies in an old man.
- Published in:
- 2010
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- Publication type:
- Case Study
Net Case: Osler-Weber-Rendu syndrome: A case report with familial clustering.
- Published in:
- 2009
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- Publication type:
- Case Study
Non-familial multiple keratoacanthomas in a 70 year-old long-term non-progressor HIV-seropositive man.
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- Indian Journal of Dermatology, Venereology & Leprology, 2008, v. 74, n. 2, p. 136, doi. 10.4103/0378-6323.39698
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- Publication type:
- Article
Familial dyskeratotic comedones.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2008, v. 74, n. 2, p. 142, doi. 10.4103/0378-6323.39700
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- Publication type:
- Article
Congenital genralized cutis laxa in two sisters.
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- Indian Journal of Dermatology, Venereology & Leprology, 2004, v. 70, n. 2, p. 108
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- Publication type:
- Article
Apert 's syndrome.
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- Indian Journal of Dermatology, Venereology & Leprology, 2004, v. 70, n. 2, p. 105
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- Publication type:
- Article
Aplasia cutis congenita: Two cases of non-scalp lesions.
- Published in:
- 2009
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- Publication type:
- Case Study
An interesting case of familial chylomicronemia syndrome in a cleft palate child.
- Published in:
- 2008
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- Publication type:
- Case Study
Familial distichiasis.
- Published in:
- 2007
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- Publication type:
- Case Study
Hypertriglyceridemia: A dangerous family affair.
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- Patient Care (Print), 2000, v. 34, n. 17, p. 22
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- Publication type:
- Article
A recurrent rash with blisters in an obese woman.
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- Patient Care (Print), 1999, v. 33, n. 9, p. 246
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- Publication type:
- Article
Expression of Angiogenic and Vasculogenic Proteins in the Lung in Alveolar Capillary Dysplasia/Misalignment of Pulmonary Veins: An Immunohistochemical Study.
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- Pediatric & Developmental Pathology, 2010, v. 13, n. 5, p. 354, doi. 10.2350/09-04-0640-OA.1
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- Publication type:
- Article
Molecular Pathology of Nephrotic Syndrome in Childhood: A Contemporary Approach to Diagnosis.
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- Pediatric & Developmental Pathology, 2008, v. 11, n. 4, p. 254, doi. 10.2350/07-11-0375.1
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- Publication type:
- Article
PDP INSIGHTS.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 1, p. 1, doi. 10.1007/s10024-005-1146-9
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- Publication type:
- Article
Bone Health is Maintained, While Fat Mass is Reduced in Pre-pubertal Children with Obesity Participating in a 1-Year Family-Centered Lifestyle Intervention.
- Published in:
- 2017
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- Publication type:
- journal article
First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family.
- Published in:
- Calcified Tissue International, 2015, v. 96, n. 4, p. 265, doi. 10.1007/s00223-014-9951-7
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- Publication type:
- Article
Increased Trabecular Volumetric Bone Mass Density in Familial Hypocalciuric Hypercalcemia (FHH) Type 1: A Cross-Sectional Study.
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- Calcified Tissue International, 2014, v. 95, n. 2, p. 141, doi. 10.1007/s00223-014-9877-0
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- Publication type:
- Article
Familial Paget disease and SQSTM1 mutations in New Zealand.
- Published in:
- 2011
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- Publication type:
- journal article
Survey of the enthesopathy of X-linked hypophosphatemia and its characterization in Hyp mice.
- Published in:
- 2009
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- Publication type:
- journal article
RE-EXAMINING THE DIFFERENTIAL FAMILIAL LIABILITY OF AGORAPHOBIA AND PANIC DISORDER.
- Published in:
- Depression & Anxiety (1091-4269), 2012, v. 29, n. 11, p. 931, doi. 10.1002/da.21975
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- Publication type:
- Article
CLINICAL PREDICTORS OF FAMILIAL DEPRESSION IN HAN CHINESE WOMEN.
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- Depression & Anxiety (1091-4269), 2012, v. 29, n. 1, p. 10, doi. 10.1002/da.20878
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- Publication type:
- Article
Memory deficits in children with and at risk for anxiety disorders.
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- Depression & Anxiety (1091-4269), 2007, v. 24, n. 2, p. 85, doi. 10.1002/da.20193
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- Publication type:
- Article
Factor analysis of the Yale–Brown Obsessive Compulsive Scale in a family study of obsessive–compulsive disorder.
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- Depression & Anxiety (1091-4269), 2007, v. 24, n. 2, p. 130, doi. 10.1002/da.20204
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- Publication type:
- Article
Familial acute aortic dissection associated with a novel ACTA2 germline variant.
- Published in:
- 2023
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- Publication type:
- Case Study
A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib.
- Published in:
- 2018
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- Publication type:
- journal article
Left ventricular non-compaction in identical twins with thalassaemia and cardiac iron overload.
- Published in:
- European Journal of Echocardiography, 2009, v. 10, n. 4, p. 509, doi. 10.1093/ejechocard/jen319
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- Publication type:
- Article
Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.
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- Journal of Cancer Research & Clinical Oncology, 2013, v. 139, n. 3, p. 529, doi. 10.1007/s00432-013-1385-5
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- Publication type:
- Article
IA-2 autoantibodies predict impending Type I diabetes in siblings of patients K. Decochez et al.: IA-2 antibodies and prediction of diabetes.
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- Diabetologia, 2002, v. 45, n. 12, p. 1658, doi. 10.1007/s00125-002-0949-8
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- Publication type:
- Article
Identification of three new mutations of the HNF-1α gene in Japanese MODY families T. Ikema et al.: New mutations in HNF-1α.
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- Diabetologia, 2002, v. 45, n. 12, p. 1713, doi. 10.1007/s00125-002-0972-9
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- Publication type:
- Article
Low frequency of HLA DRB1*03 – DQB1*02 and DQB1*0302 haplotypes in Romania is consistent with the country's low incidence of Type I diabetes.
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- Diabetologia, 2001, v. 44, p. B60, doi. 10.1007/PL00002956
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- Article
Familial aggregation of endometriosis in the Yale Series.
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- Archives of Gynecology & Obstetrics, 2008, v. 278, n. 6, p. 507, doi. 10.1007/s00404-008-0644-1
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- Publication type:
- Article
Restrictive dermopathy: a rare laminopathy.
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- Archives of Gynecology & Obstetrics, 2008, v. 278, n. 3, p. 201, doi. 10.1007/s00404-008-0676-6
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- Publication type:
- Article
Risk Factors in Patients with Hereditary Gallstones in Chinese Pedigrees.
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- Medical Principles & Practice, 2012, v. 21, n. 5, p. 467, doi. 10.1159/000337437
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- Publication type:
- Article
Prevention of Amyloidosis in Familial Mediterranean Fever with Colchicine: A Case-Control Study in Armenia.
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- Medical Principles & Practice, 2009, v. 18, n. 6, p. 441, doi. 10.1159/000235892
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- Publication type:
- Article
Homozygous Familial Hypercholesterolemia with Generalized Arterial Disease.
- Published in:
- Medical Principles & Practice, 2007, v. 16, n. 1, p. 75, doi. 10.1159/000096146
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- Publication type:
- Article
Unilateral Moyamoya Disease in Two Brothers in The Netherlands.
- Published in:
- Cerebrovascular Diseases, 2003, v. 16, n. 1, p. 105, doi. 10.1159/000070127
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- Publication type:
- Article
Markov counting models for correlated binary responses.
- Published in:
- Biostatistics, 2015, v. 16, n. 3, p. 427, doi. 10.1093/biostatistics/kxv006
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- Publication type:
- Article
Combined association and aggregation analysis of data from case-control family studies.
- Published in:
- Biometrika, 1998, v. 85, n. 2, p. 299, doi. 10.1093/biomet/85.2.299
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- Publication type:
- Article