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The Multidimensional Prognostic Index Predicts Short- and Long-Term Mortality in Hospitalized Geriatric Patients With Pneumonia.
- Published in:
- Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2009, v. 64A, n. 8, p. 880, doi. 10.1093/gerona/glp031
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- Publication type:
- Article
The Multidimensional Prognostic Index (MPI), Based on a Comprehensive Geriatric Assessment Predicts Short- and Long-Term Mortality in Hospitalized Older Patients with Dementia.
- Published in:
- Journal of Alzheimer's Disease, 2009, v. 18, n. 1, p. 191, doi. 10.3233/JAD-2009-1139
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- Publication type:
- Article
Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 6, p. 899, doi. 10.3390/jpm13060899
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- Publication type:
- Article
Monitoring Perinatal Gut Microbiota in Mouse Models by Mass Spectrometry Approaches: Parental Genetic Background and Breastfeeding Effects.
- Published in:
- Frontiers in Microbiology, 2016, p. 1, doi. 10.3389/fmicb.2016.01523
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- Publication type:
- Article
Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor.
- Published in:
- Journal of Gastroenterology, 2006, v. 41, n. 4, p. 378, doi. 10.1007/s00535-006-1772-7
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- Publication type:
- Article
Infantile cortical hyperostosis and COL1A1 mutation in four generations.
- Published in:
- 2011
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- Publication type:
- journal article
Costello syndrome: clinical diagnosis in the first year of life.
- Published in:
- 2008
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- Publication type:
- journal article
Familial recurrence of congenital heart disease: an overview and review of the literature.
- Published in:
- 2007
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- Publication type:
- journal article
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
- Published in:
- 2006
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- Publication type:
- journal article
Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies.
- Published in:
- 2002
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- Publication type:
- research
Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 2, p. 401, doi. 10.1111/cge.13029
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- Publication type:
- Article
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 6, p. 573, doi. 10.1111/j.1399-0004.2009.01262.x
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- Publication type:
- Article
Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 3, p. 156, doi. 10.1111/j.1399-0004.1995.tb04077.x
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- Publication type:
- Article
Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.
- Published in:
- Clinical Genetics, 1995, v. 47, n. 6, p. 281, doi. 10.1111/j.1399-0004.1995.tb03965.x
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- Publication type:
- Article
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-75
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- Publication type:
- Article
The internet user profile of Italian families of patients with rare diseases: a web survey.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-76
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- Publication type:
- Article
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
- Published in:
- 2013
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- Publication type:
- journal article
The internet user profile of Italian families of patients with rare diseases: a web survey.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
- Published in:
- 2011
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- Publication type:
- journal article
Acro-cardio-facial syndrome.
- Published in:
- 2010
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- Publication type:
- journal article
Acro-cardio-facial syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 25, doi. 10.1186/1750-1172-5-25
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- Publication type:
- Article
Joubert Syndrome and related disorders.
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- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 20, doi. 10.1186/1750-1172-5-20
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- Publication type:
- Article
Leopard syndrome.
- Published in:
- 2008
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- Publication type:
- journal article
Leopard syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-13
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- Publication type:
- Article
KBG syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2006, v. 1, p. 50, doi. 10.1186/1750-1172-1-50
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- Publication type:
- Article
Orphanet Journal of Rare Diseases: Launch Editorial.
- Published in:
- Orphanet Journal of Rare Diseases, 2006, v. 1, p. 1, doi. 10.1186/1750-1172-1-1
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- Publication type:
- Article
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12900, doi. 10.3390/ijms232112900
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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).
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- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1190, doi. 10.3390/ijms22031190
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- Publication type:
- Article
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 750, doi. 10.3390/ijms22020750
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- Publication type:
- Article
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1459, doi. 10.3390/ijms20061459
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- Publication type:
- Article
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 82, doi. 10.3390/ijms19010082
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- Publication type:
- Article
Meta-Omic Platforms to Assist in the Understanding of NAFLD Gut Microbiota Alterations: Tools and Applications.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 1, p. 684, doi. 10.3390/ijms15010684
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- Publication type:
- Article
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: Fourteen novel ATM mutations.
- Published in:
- Disease Markers, 2006, v. 22, n. 4, p. 257, doi. 10.1155/2006/740493
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- Publication type:
- Article
Analysis of gut microbiota in patients with Williams–Beuren Syndrome reveals dysbiosis linked to clinical manifestations.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36704-1
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- Publication type:
- Article
Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869042
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- Publication type:
- Article
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
- Published in:
- 2008
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- Publication type:
- Correction Notice
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 12, p. 1011, doi. 10.1007/s10038-007-0208-4
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- Publication type:
- Article
A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.
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- Journal of Human Genetics, 1999, v. 44, n. 1, p. 76, doi. 10.1007/s100380050113
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- Publication type:
- Article
Robert J. Gorlin: Personal Memory of a Friend and Mentor in Clinical Genetics.
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- Audiology Research, 2023, v. 13, n. 6, p. 939, doi. 10.3390/audiolres13060081
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- Publication type:
- Article
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 4, p. 397, doi. 10.1002/ajmg.b.32627
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- Publication type:
- Article
Behavioral phenotype in Costello syndrome with atypical mutation: A case report.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2015, v. 168B, n. 1, p. 66, doi. 10.1002/ajmg.b.32279
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- Publication type:
- Article
The mendelian basis of congenital heart defects.
- Published in:
- Cardiology in the Young, 1996, v. 6, n. 4, p. 264, doi. 10.1017/S1047951100003887
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- Publication type:
- Article
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1836, doi. 10.1002/ajmg.a.62694
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- Publication type:
- Article
Congenital heart defects in molecularly confirmed KBG syndrome patients.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1149, doi. 10.1002/ajmg.a.62632
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- Publication type:
- Article
Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 242, doi. 10.1002/ajmg.a.61937
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- Publication type:
- Article
PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3014, doi. 10.1002/ajmg.a.61889
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- Publication type:
- Article
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1977, doi. 10.1002/ajmg.a.61719
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- Publication type:
- Article
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1342, doi. 10.1002/ajmg.a.61586
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- Publication type:
- Article
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1073, doi. 10.1002/ajmg.a.61524
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- Publication type:
- Article
Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 64, doi. 10.1002/ajmg.a.61383
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- Publication type:
- Article