Found: 22
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Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2022.1072256
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- Publication type:
- Article
Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2316
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- Publication type:
- Article
Cobblestone‐like brain malformation with a new bi‐allelic ADGRG1 (GPR‐56) mutation: Fetal imaging‐pathology correlation.
- Published in:
- 2023
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- Publication type:
- Case Study
Menkes disease complicated by concurrent ACY1 deficiency: A case report.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1077625
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- Publication type:
- Article
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 5912, doi. 10.3390/ijms23115912
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- Publication type:
- Article
Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 16, p. 8771, doi. 10.3390/ijerph18168771
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- Publication type:
- Article
Cerebellar dysplasia related to PIK3CA mutation: a three-case series.
- Published in:
- Neurogenetics, 2021, v. 22, n. 1, p. 27, doi. 10.1007/s10048-020-00628-z
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- Publication type:
- Article
Natural history of non-lethal Raine syndrome during childhood.
- Published in:
- 2020
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- Publication type:
- journal article
ACERCA DE LA ORIENTACIÓN PSICOLÓGICA EN DISTINTOS CAMPOS.
- Published in:
- Orientación y Sociedad, 2019, v. 19, n. 2, p. 1
- By:
- Publication type:
- Article
Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0500-2
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- Publication type:
- Article
Moebius syndrome: clinical features, diagnosis, management and early intervention.
- Published in:
- Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-016-0256-5
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- Publication type:
- Article
DIAGNÓSTICO LOCAL: ANÁLISIS Y EVALUACIÓN DE LA SITUACIÓN OCUPA CIONAL DE LOS JÓVENES EN LA CIUDAD DE CIPOLLETTI.
- Published in:
- Orientación y Sociedad, 2016, v. 16, p. 125
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- Publication type:
- Article
A comprehensive look at transcription factor gene expression changes in colorectal adenomas.
- Published in:
- BMC Cancer, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2407-14-46
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- Publication type:
- Article
A comprehensive look at transcription factor gene expression changes in colorectal adenomas.
- Published in:
- 2014
- By:
- Publication type:
- journal article
First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1173, doi. 10.1002/ajmg.a.35813
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- Publication type:
- Article
The expression of leucine-rich repeat gene family members in colorectal cancer.
- Published in:
- Experimental Biology & Medicine, 2012, v. 237, n. 10, p. 1123, doi. 10.1258/ebm.2012.012042
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- Publication type:
- Article
Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031038
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- Publication type:
- Article
Molecular pathways undergoing dramatic transcriptomic changes during tumor development in the human colon.
- Published in:
- BMC Cancer, 2012, v. 12, n. 1, p. 608, doi. 10.1186/1471-2407-12-608
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- Publication type:
- Article
Molecular pathways undergoing dramatic transcriptomic changes during tumor development in the human colon.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 16, p. 3304
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- Publication type:
- Article
Preinvasive colorectal lesion transcriptomes correlate with endoscopic morphology (polypoid vs. nonpolypoid).
- Published in:
- EMBO Molecular Medicine, 2011, v. 3, n. 6, p. 334, doi. 10.1002/emmm.201100141
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- Publication type:
- Article
Laser-Capture Microdissection Impairs Activity-Based Protein Profiles for Serine Hydrolase in Human Lung Adenocarcinoma.
- Published in:
- Journal of Biomolecular Techniques, 2010, v. 21, n. 1, p. 25
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- Publication type:
- Article