Found: 35
Select item for more details and to access through your institution.
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
- Published in:
- 2017
- By:
- Publication type:
- journal article
La metafisica nell'ottica di Edith Stein interdisciplinarità e transdisciplinarità del metodo teologico.
- Published in:
- Alpha Omega, 2021, v. 24, n. 1, p. 27
- By:
- Publication type:
- Article
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 7, p. 363, doi. 10.1038/jhg.2015.31
- By:
- Publication type:
- Article
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 7, p. 516, doi. 10.1038/jhg.2011.51
- By:
- Publication type:
- Article
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 889, doi. 10.1002/ajmg.a.62023
- By:
- Publication type:
- Article
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1378, doi. 10.1002/ajmg.a.38181
- By:
- Publication type:
- Article
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1062, doi. 10.1002/ajmg.a.36390
- By:
- Publication type:
- Article
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1074, doi. 10.1038/ng.944
- By:
- Publication type:
- Article
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
- Published in:
- Nature Genetics, 2008, v. 40, n. 6, p. 719, doi. 10.1038/ng.158
- By:
- Publication type:
- Article
Chiara d'Assisi donna di luce.
- Published in:
- Rassegna di Teologia, 2014, p. 337
- By:
- Publication type:
- Article
Una chiesa per vivere.
- Published in:
- Rassegna di Teologia, 2012, p. 519
- By:
- Publication type:
- Article
A Point Mutation in the Gene for Asparagine-Linked Glycosylation 10B (<i>Alg10b</i>) Causes Nonsyndromic Hearing Impairment in Mice (<i>Mus musculus</i>).
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080408
- By:
- Publication type:
- Article
Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 4, p. 1, doi. 10.1210/jendso/bvac015
- By:
- Publication type:
- Article
Regional genomic instability predisposes to complex dystrophin gene rearrangements.
- Published in:
- Human Genetics, 2009, v. 126, n. 3, p. 411, doi. 10.1007/s00439-009-0679-9
- By:
- Publication type:
- Article
Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency.
- Published in:
- Journal of Autism & Developmental Disorders, 2008, v. 38, n. 6, p. 1170, doi. 10.1007/s10803-007-0492-z
- By:
- Publication type:
- Article
Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 523, doi. 10.1515/jpem-2015-0341
- By:
- Publication type:
- Article
LA MINISTERIALITÀ DELLA DONNA ALL'INTERNO DELLA TEOLOGIA DEI CARISMI NELLA CHIESA.
- Published in:
- Miscellanea Francescana, 2023, v. 123, n. 1/2, p. 210
- By:
- Publication type:
- Article
L'eremo di frate Francesco. Analisi e attualità del De religiosa habitatione in eremis.
- Published in:
- Miscellanea Francescana, 2022, v. 122, n. 1/2, p. 235
- By:
- Publication type:
- Article
Tra scienza e santità. Gesualdo da Reggio Calabria.
- Published in:
- Miscellanea Francescana, 2022, v. 122, n. 1/2, p. 233
- By:
- Publication type:
- Article
FONDAMENTI EPISTEMOLOGICI DELLA MARIOLOGIA SPIRITUALE.
- Published in:
- Miscellanea Francescana, 2022, v. 122, n. 1/2, p. 25
- By:
- Publication type:
- Article
Dal grido degli ultimi al silenzio di Dio. Biografia della Beata Maria Lorenza Longo Fondatrice dell'Ospedale Incurabili di Napoli e delle Monache Cappuccine (ca. 1463-1539).
- Published in:
- Miscellanea Francescana, 2021, v. 121, n. 3/4, p. 554
- By:
- Publication type:
- Article
San Lorenzo da Brindisi Doctor apostolicus nell'Europa tra Cinque e Seicento.
- Published in:
- Miscellanea Francescana, 2021, v. 121, n. 3/4, p. 553
- By:
- Publication type:
- Article
LA VERGINE MADRE DELL'EMMANUELE: DONNA DELL'ALLEANZA E DEL SERVIZIO: Fondamenti biblici della mariologia spirituale.
- Published in:
- Miscellanea Francescana, 2021, v. 121, n. 3/4, p. 313
- By:
- Publication type:
- Article
MARIA, MADRE CHE GENERA L'AMORE CRISTIANO Una lettura mariana della "Fratelli tutti".
- Published in:
- Miscellanea Francescana, 2021, v. 121, n. 1/2, p. 44
- By:
- Publication type:
- Article
LA CRISTOLOGIA DI GAL 4,4 E LA CONCRETEZZA STORICA DELL'INCARNAZIONE DEL VERBO IN PROSPETTIVA REDENTIVA.
- Published in:
- Miscellanea Francescana, 2020, v. 120, n. 3/4, p. 311
- By:
- Publication type:
- Article
IL PRINCIPIO ANTROPOTEOLOGICO E MARIOLOGICO DELLA DIGNITÀ E VOCAZIONE DELLA DONNA NELLA "MULIERIS DIGNITATEM".
- Published in:
- Miscellanea Francescana, 2020, v. 120, n. 1/2, p. 238
- By:
- Publication type:
- Article
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 8, p. e2327351, doi. 10.1001/jamanetworkopen.2023.27351
- By:
- Publication type:
- Article
Exome sequencing identifies PD‐L2 as a potential predisposition gene for lymphoma.
- Published in:
- Hematological Oncology, 2022, v. 40, n. 3, p. 475, doi. 10.1002/hon.3033
- By:
- Publication type:
- Article
A novel telomere biology disease‐associated gastritis identified through a whole exome sequencing‐driven approach.
- Published in:
- Journal of Pathology: Clinical Research, 2024, v. 10, n. 1, p. 1, doi. 10.1002/cjp2.349
- By:
- Publication type:
- Article
<italic>FOXP3</italic> mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome.
- Published in:
- Pediatric Diabetes, 2018, v. 19, n. 3, p. 388, doi. 10.1111/pedi.12612
- By:
- Publication type:
- Article
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. 950, doi. 10.1002/humu.24374
- By:
- Publication type:
- Article
Detection of clinically relevant exonic copy-number changes by array CGH.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1326, doi. 10.1002/humu.21360
- By:
- Publication type:
- Article
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
- Published in:
- Human Mutation, 2008, v. 29, n. 9, p. 1100, doi. 10.1002/humu.20841
- By:
- Publication type:
- Article
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-71
- By:
- Publication type:
- Article