Found: 39
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Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal.
- Published in:
- Clinical Genetics, 1995, v. 47, n. 1, p. 38, doi. 10.1111/j.1399-0004.1995.tb03919.x
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- Publication type:
- Article
Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 3, p. 140, doi. 10.1111/j.1399-0004.1994.tb04011.x
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- Publication type:
- Article
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
- Published in:
- 2022
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- Publication type:
- journal article
An atypical Aymé‐Gripp phenotype detected by exome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 70, doi. 10.1002/ajmg.a.63406
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- Publication type:
- Article
Small 4p16.3 deletions: Three additional patients and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2501, doi. 10.1002/ajmg.a.40512
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- Publication type:
- Article
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 231, doi. 10.1002/ajmg.a.37989
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- Publication type:
- Article
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2627, doi. 10.1002/ajmg.a.36667
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- Publication type:
- Article
Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: The masterpieces of the 'Sansevero Chapel'.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2920, doi. 10.1002/ajmg.a.36258
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- Publication type:
- Article
The Salernitan school of medicine: Women, men, and children. A syndromological review of the oldest medical school in the western world.
- Published in:
- 2013
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- Publication type:
- Other
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1604, doi. 10.1002/ajmg.a.35419
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- Publication type:
- Article
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 917, doi. 10.1002/ajmg.a.35265
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- Publication type:
- Article
Evidence for Increased Clinical Severity of Familial and Sporadic Paget's Disease of Bone in Campania, Southern Italy.
- Published in:
- Journal of Bone & Mineral Research, 2006, v. 21, n. 12, p. 1828, doi. 10.1359/JBMR.060822
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- Publication type:
- Article
Biosynthesis of Cd-bound phytochelatins by Phaeodactylum tricornutum and their speciation by size-exclusion chromatography and ion-pair chromatography coupled to ICP–MS.
- Published in:
- Analytical & Bioanalytical Chemistry, 2005, v. 383, n. 3, p. 398, doi. 10.1007/s00216-005-3385-z
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- Publication type:
- Article
Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.
- Published in:
- Pediatric Pulmonology, 2014, v. 49, n. 3, p. E45, doi. 10.1002/ppul.22790
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- Publication type:
- Article
Social and geographical inequalities in prenatal care in Italy.
- Published in:
- Prenatal Diagnosis, 1995, v. 15, n. 6, p. 535, doi. 10.1002/pd.1970150606
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- Publication type:
- Article
Preferential Associations Between Oral Clefts and Other Major Congenital Anomalies.
- Published in:
- Cleft Palate Craniofacial Journal, 2008, v. 45, n. 5, p. 525, doi. 10.1597/06-250.1
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- Publication type:
- Article
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.
- Published in:
- Journal of Public Health, 2022, v. 44, n. 3, p. 586, doi. 10.1093/pubmed/fdab137
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- Publication type:
- Article
Polarographic Behavior of Metal Phytochelatin Complexes.
- Published in:
- Electroanalysis, 1998, v. 10, n. 1, p. 39, doi. 10.1002/(SICI)1521-4109(199801)10:1<39::AID-ELAN39>3.0.CO;2-X
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- Publication type:
- Article
Cathodic stripping voltammetric determination of metallothioneins.
- Published in:
- Electroanalysis, 1996, v. 8, n. 4, p. 396, doi. 10.1002/elan.1140080418
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- Publication type:
- Article
Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer.
- Published in:
- Cancers, 2023, v. 15, n. 7, p. 1944, doi. 10.3390/cancers15071944
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- Publication type:
- Article
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 734, doi. 10.1038/ejhg.2012.7
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- Publication type:
- Article
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 768, doi. 10.1038/ejhg.2010.1
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- Publication type:
- Article
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 4, p. 421, doi. 10.1038/sj.ejhg.5200333
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- Publication type:
- Article
Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 13, p. 759, doi. 10.1002/bdr2.2058
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- Publication type:
- Article
Congenital Anomalies in Contaminated Sites: A Multisite Study in Italy.
- Published in:
- International Journal of Environmental Research & Public Health, 2017, v. 14, n. 3, p. 292, doi. 10.3390/ijerph14030292
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- Publication type:
- Article
Prevalence and determinants of preconception folic acid use: an Italian multicenter survey.
- Published in:
- Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-016-0278-z
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- Publication type:
- Article
Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 11, p. 1093, doi. 10.1002/pd.4433
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- Publication type:
- Article
Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 10, p. 998, doi. 10.1002/pd.2329
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- Publication type:
- Article
Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunk-like' image and review of the literature.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 741, doi. 10.1002/humu.20930
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- Publication type:
- Article
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 32, doi. 10.3390/genes15010032
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- Publication type:
- Article
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1444, doi. 10.3390/genes14071444
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- Publication type:
- Article
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12291, doi. 10.3390/ijms241512291
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- Publication type:
- Article
Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta.
- Published in:
- Human Mutation, 1993, v. 2, n. 3, p. 196, doi. 10.1002/humu.1380020308
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- Publication type:
- Article
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0122-5
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- Publication type:
- Article
Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-1
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- Publication type:
- Article