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Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 118, doi. 10.1002/mdc3.12865
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- Publication type:
- Article
Calpain-3 mutations in Turkey.
- Published in:
- 2006
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- Publication type:
- journal article
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-16
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- Publication type:
- Article
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
- Published in:
- 2013
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- Publication type:
- journal article
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9241, doi. 10.3390/ijms24119241
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- Publication type:
- Article
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 9108, doi. 10.3390/ijms24109108
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- Publication type:
- Article
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5551, doi. 10.3390/ijms24065551
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- Publication type:
- Article
Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2577, doi. 10.3390/ijms24032577
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- Publication type:
- Article
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15906, doi. 10.3390/ijms232415906
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- Publication type:
- Article
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11995, doi. 10.3390/ijms231911995
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- Publication type:
- Article
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 8952, doi. 10.3390/ijms23168952
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- Publication type:
- Article
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).
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- Cerebellum, 2019, v. 18, n. 5, p. 972, doi. 10.1007/s12311-019-01069-7
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- Publication type:
- Article
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-24636-1
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- Publication type:
- Article
A Rare Case of Severe Congenital RYR1-Associated Myopathy.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6184185
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- Publication type:
- Article
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs.
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- Nucleic Acids Research, 2016, v. 44, n. 4, p. 1525, doi. 10.1093/nar/gkw039
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- Publication type:
- Article
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 102, doi. 10.1002/ajmg.c.31973
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- Publication type:
- Article
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63713
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- Publication type:
- Article
Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63517
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- Publication type:
- Article
An atypical Aymé‐Gripp phenotype detected by exome sequencing.
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- 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
Periventricular heterotopia in a male child with USP9X missense variant.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1350, doi. 10.1002/ajmg.a.63123
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- Publication type:
- Article
Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 823, doi. 10.1002/ajmg.a.63061
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- Publication type:
- Article
Are SHROOM4 loss‐of‐function variants pathogenic?
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3374, doi. 10.1002/ajmg.a.62935
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- Publication type:
- Article
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3032, doi. 10.1002/ajmg.a.62911
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- Publication type:
- Article
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1661, doi. 10.1002/ajmg.a.62710
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- Publication type:
- Article
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3784, doi. 10.1002/ajmg.a.62447
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- Publication type:
- Article
Novel unconventional variants expand the allelic spectrum of OPHN1 gene.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1575, doi. 10.1002/ajmg.a.62144
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- Publication type:
- Article
Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1466, doi. 10.1002/ajmg.a.61549
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- Publication type:
- Article
Expansion of the phenotype of lateral meningocele syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1259, doi. 10.1002/ajmg.a.61536
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- Publication type:
- Article
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2835, doi. 10.1002/ajmg.a.40534
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- Publication type:
- Article
<italic>UBE2A</italic> deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 722, doi. 10.1002/ajmg.a.38589
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- Publication type:
- Article
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 426, doi. 10.1002/ajmg.a.38560
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- Publication type:
- Article
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2743, doi. 10.1002/ajmg.a.38367
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- Publication type:
- Article
Familial trisomy 6p in mother and daughter.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1675, doi. 10.1002/ajmg.a.35928
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- Publication type:
- Article
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
- Published in:
- 2020
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- Publication type:
- journal article
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features - a case report.
- Published in:
- 2016
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- Publication type:
- Case Study
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0100-3
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- Publication type:
- Article
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.
- Published in:
- Frontiers in Pharmacology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphar.2020.599191
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- Publication type:
- Article
Early Findings in Neonatal Cases of RYR1 –Related Congenital Myopathies.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.664618
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- Publication type:
- Article
The Human Microbiota in Endocrinology: Implications for Pathophysiology, Treatment, and Prognosis in Thyroid Diseases.
- Published in:
- Frontiers in Endocrinology, 2020, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.586529
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- Publication type:
- Article
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.
- Published in:
- Skeletal Muscle, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13395-019-0199-9
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- Publication type:
- Article
Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063536
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- Publication type:
- Article
Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052264
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- Publication type:
- Article
Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043799
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- Publication type:
- Article
Worsening of Cardiomyopathy Using Deflazacort in an Animal Model Rescued by Gene Therapy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024729
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- Publication type:
- Article
Disease Rescue and Increased Lifespan in a Model of Cardiomyopathy and Muscular Dystrophy by Combined AAV Treatments.
- Published in:
- PLoS ONE, 2009, v. 4, n. 3, p. 1, doi. 10.1371/journal.pone.0005051
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- Publication type:
- Article
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
- Published in:
- 2017
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- Publication type:
- journal article
Next generation sequencing detection of late onset pompe disease.
- Published in:
- 2016
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- Publication type:
- journal article
Reply.
- Published in:
- 2016
- By:
- Publication type:
- commentary
Incomplete penetrance in limb-girdle muscular dystrophy type 1F.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Dominant muscular dystrophy with a novel SYNE1 gene mutation.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 1, p. 145, doi. 10.1002/mus.24357
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- Publication type:
- Article