Found: 31
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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
Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5372, doi. 10.3390/ijms22105372
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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
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
'CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases' American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1682, doi. 10.1002/ajmg.a.36860
- By:
- Publication type:
- Article
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2557, doi. 10.1002/ajmg.a.36696
- By:
- 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
- By:
- 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
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 16, doi. 10.1038/12612
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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
SARS-CoV-2 in Urine May Predict a Severe Evolution of COVID-19.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 18, p. 4061, doi. 10.3390/jcm10184061
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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
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
- Published in:
- Pediatric Reports, 2022, v. 14, n. 1, p. 131, doi. 10.3390/pediatric14010019
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- Publication type:
- Article
An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0580-z
- By:
- Publication type:
- Article
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
- Published in:
- Cell Death & Disease, 2022, v. 13, n. 11, p. 1, doi. 10.1038/s41419-022-05410-7
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- Publication type:
- Article
Michelangelo's David: triumph of perfection or perfect combination of variation and disproportions? A human perspective.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2019, v. 124, n. 2, p. 201, doi. 10.13128/ijae-10782
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- Publication type:
- Article
An integration into the diagnostic workflow in a pediatric patient suspected of having Marfan syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 769, doi. 10.1002/ajmg.a.33852
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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
Non-Invasive Prenatal Screening from a Genetic Counseling Prospective: Pre and Post-Genetic Counseling Regarding Rare Chromosomal Abnormalities and Incidental Finding.
- Published in:
- Genes, 2024, v. 15, n. 10, p. 1349, doi. 10.3390/genes15101349
- By:
- Publication type:
- Article
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 119, doi. 10.3390/genes14010119
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- Publication type:
- Article
Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1462, doi. 10.3390/genes12101462
- By:
- Publication type:
- Article
The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 881, doi. 10.3390/genes12060881
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- Publication type:
- Article
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.
- Published in:
- Genes, 2020, v. 11, n. 3, p. 248, doi. 10.3390/genes11030248
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- Publication type:
- Article
Congenital scoliosis associated with agenesis of the uterine cervix. Case report.
- Published in:
- BMC Women's Health, 2004, v. 4, p. 4, doi. 10.1186/1472-6874-4-4
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- Publication type:
- Article
Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1605, doi. 10.1093/hmg/6.9.1605
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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