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Reproductive risk factors in unilateral and bilateral renal agenesis.
- Published in:
- Clinical Genetics, 1993, v. 43, n. 1, p. 79, doi. 10.1111/j.1399-0004.1993.tb04423.x
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- Publication type:
- Article
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).
- Published in:
- 2020
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- Publication type:
- journal article
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 649, doi. 10.1111/cge.13691
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- Publication type:
- Article
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1026, doi. 10.1038/ejhg.2013.287
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- Publication type:
- Article
Health Risks of Low-Dose Ionizing Radiation in Humans.
- Published in:
- Experimental Biology & Medicine, 2005, v. 230, n. 2, p. 99, doi. 10.1177/153537020523000201
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- Publication type:
- Article
RE: “PARITY AND THE RISK OF DOWN’S SYNDROME”.
- Published in:
- American Journal of Epidemiology, 2004, v. 160, n. 6, p. 610, doi. 10.1093/aje/kwh241
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- Publication type:
- Article
Carrier screening for spinal muscular atrophy in Italian population.
- Published in:
- Journal of Genetics, 2014, v. 93, n. 1, p. 179, doi. 10.1007/s12041-014-0323-x
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- Publication type:
- Article
Further Evidence of No Association between Spinal Muscular Atrophy and Increased Nuchal Translucency.
- Published in:
- Fetal Diagnosis & Therapy, 2013, v. 33, n. 1, p. 65, doi. 10.1159/000343252
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- Publication type:
- Article
Correspondence.
- Published in:
- 1999
- By:
- Publication type:
- Letter
In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 943, doi. 10.3390/genes15070943
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- Publication type:
- Article
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 780, doi. 10.3390/genes13050780
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- Publication type:
- Article
Occurrence of fetal choroid plexus cysts in siblings.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Maternal and Paternal Risk Factors for Hypospadias.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Sex ratio imbalance and Down's syndrome newborns.
- Published in:
- Journal of Perinatal Medicine, 2001, v. 29, n. 3, p. 266
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- Publication type:
- Article
Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 11, p. 2581, doi. 10.1007/s10815-022-02653-3
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- Publication type:
- Article
Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 11, p. 6529, doi. 10.1007/s10072-022-06247-w
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- Publication type:
- Article
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
- Published in:
- Glycoconjugate Journal, 2019, v. 36, n. 6, p. 461, doi. 10.1007/s10719-019-09890-2
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- Publication type:
- Article
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 357, doi. 10.1002/humu.22751
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- Publication type:
- Article
Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias.
- Published in:
- 2011
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- Publication type:
- journal article
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.
- Published in:
- Cancer Management & Research, 2022, v. 14, p. 1341, doi. 10.2147/CMAR.S348529
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- Publication type:
- Article
Craniorachischisis and Heterotaxia with Heart Disease in Twins: Link or Change Nature?
- Published in:
- Congenital Heart Disease, 2010, v. 5, n. 5, p. 450, doi. 10.1111/j.1747-0803.2010.00400.x
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- Publication type:
- Article
Congenital Cataract and Heart Septal Defects: Are Contiguous or Reciprocally Influenced Genes Involved?
- Published in:
- 2009
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- Publication type:
- Editorial
Immune responses to hepatitis B vaccine with and without the pre-S2 antigen in children with type 1 diabetes.
- Published in:
- 2001
- By:
- Publication type:
- letter
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia.
- Published in:
- Congenital Anomalies, 2014, v. 54, n. 3, p. 193, doi. 10.1111/cga.12054
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- Publication type:
- Article
Prenatal diagnosis of a fetus with anencephaly and thumb agenesis.
- Published in:
- Congenital Anomalies, 2012, v. 52, n. 1, p. 64, doi. 10.1111/j.1741-4520.2011.00325.x
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- Publication type:
- Article
Reproductive risk factors in unilateral and bilateral renal agenesis.
- Published in:
- Congenital Anomalies, 2003, v. 43, n. 1, p. 79, doi. 10.1111/j.1741-4520.2003.tb01030.x
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- Publication type:
- Article
An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1671, doi. 10.1002/ajmg.a.37054
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- Publication type:
- Article
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1923, doi. 10.1002/ajmg.a.36570
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- Publication type:
- Article
Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1381, doi. 10.1002/ajmg.a.35860
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- Publication type:
- Article
Fraser Syndrome: Epidemiological Study in a European Population.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1012, doi. 10.1002/ajmg.a.35839
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- Publication type:
- Article
Familial Poland anomaly revisited.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 140, doi. 10.1002/ajmg.a.34370
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- Publication type:
- Article
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1190, doi. 10.3390/ijms22031190
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- Publication type:
- Article
Hypospadias and Robertsonian Translocation.
- Published in:
- Urologia Internationalis, 2006, v. 77, n. 1, p. 85, doi. 10.1159/000092941
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- Publication type:
- Article
Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 268, doi. 10.1111/cge.13994
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- Publication type:
- Article
Congenital talipes equinovarus: an epidemiological study in Sicily.
- Published in:
- Acta Orthopaedica, 2012, v. 83, n. 3, p. 294, doi. 10.3109/17453674.2012.678797
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- Publication type:
- Article