Found: 23
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Novel spondyloepimetaphyseal dysplasia due to <italic>UFSP2</italic> gene mutation.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 3, p. 671, doi. 10.1111/cge.13134
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- Publication type:
- Article
Congenital central hypoventilation syndrome: genotype–phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 3, p. 289, doi. 10.1111/j.1399-0004.2010.01383.x
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- Publication type:
- Article
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 5, p. 427, doi. 10.1111/j.1399-0004.2007.00869.x
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- Article
Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 2, p. 131, doi. 10.1034/j.1399-0004.2001.590212.x
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- Publication type:
- Article
Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab.
- Published in:
- Pediatric Rheumatology, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12969-019-0336-3
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- Publication type:
- Article
Autosomal dominant polycystic kidney disease: prenatal diagnosis by DNA analysis and sonography at 14 weeks.
- Published in:
- 1989
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- Publication type:
- journal article
Late‐onset and long‐lasting neutropenias in the young: A new entity anticipating immune‐dysregulation disorders.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 4, p. 534, doi. 10.1002/ajh.27221
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- Publication type:
- Article
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.
- Published in:
- American Journal of Neuroradiology, 2021, v. 42, n. 5, p. 975, doi. 10.3174/ajnr.A7019
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- Publication type:
- Article
Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.
- Published in:
- 1998
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- Publication type:
- journal article
Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects.
- Published in:
- Internal Medicine Journal, 2009, v. 39, n. 5, p. 335, doi. 10.1111/j.1445-5994.2009.01907.x
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- Publication type:
- Article
HOX11L1, a gene involved in peripheral nervous system development, maps to human chromosome 2p13.1→p12 and mouse chromosome 6C3–D1.
- Published in:
- Cytogenetic & Genome Research, 1999, v. 84, n. 1/2, p. 115, doi. 10.1159/000015234
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- Publication type:
- Article
Assignment 1 of the HOX11L2 gene to human chromosome band 5q35.1 and of its murine homolog to mouse chromosome bands 11A4--A5 by in situ hybridization.
- Published in:
- Cytogenetics & Cell Genetics, 2001, v. 92, n. 3/4, p. 354, doi. 10.1159/000056931
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- Publication type:
- Article
HOX11L1, a gene involved in peripheral nervous system development, maps to human chromosome 2p13.1→p12 and mouse chromosome 6C3–D1.
- Published in:
- Cytogenetics & Cell Genetics, 1999, v. 84, n. 1/2, p. 115, doi. 10.1159/000015234
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- Publication type:
- Article
Haplotypes of the Human RET Proto-oncogene Associated with Hirschsprung Disease in the Italian Population Derive from a Single Ancestral Combination of Alleles.
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- Annals of Human Genetics, 2006, v. 70, n. 1, p. 12, doi. 10.1111/j.1529-8817.2005.00196.x
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- Publication type:
- Article
Recurrent arthritis as a unique manifestation of hyperimmunoglobulinaemia D.
- Published in:
- Rheumatology, 2009, v. 48, n. 2, p. 199
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- Publication type:
- Article
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
- Published in:
- 2010
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- Publication type:
- Journal Article
Unexplained recurrent arthritis as presenting sign of hereditary autoinflammatory syndromes.
- Published in:
- 2011
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- Publication type:
- Abstract
Megacystis, megacolon, and malrotation: A new syndromic association?
- Published in:
- 2011
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- Publication type:
- Other
Genomics approach to the analysis of bacterial communities dynamics in Hirschsprung's disease-associated enterocolitis: a pilot study.
- Published in:
- 2010
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- Publication type:
- journal article
Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients.
- Published in:
- Pediatric Surgery International, 2002, v. 18, n. 5/6, p. 378, doi. 10.1007/s00383-002-0824-1
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- Publication type:
- Article
Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1031074
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- Publication type:
- Article
The Ret proto-oncogene in the WAG/Rij rat strain: an animal model for inherited C-cell carcinoma?
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- Laboratory Animals, 2003, v. 37, n. 3, p. 215, doi. 10.1258/002367703766453065
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- Publication type:
- Article
Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).
- Published in:
- British Journal of Dermatology, 2017, v. 176, n. 6, p. 1588, doi. 10.1111/bjd.15226
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- Publication type:
- Article