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Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 9, p. 2392, doi. 10.1002/acn3.52154
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- Publication type:
- Article
l-Folinic Acid Versus d,l-Folinic Acid in Rescue of High-Dose Methotrexate Therapy in Children.
- Published in:
- JNCI: Journal of the National Cancer Institute, 1992, v. 84, n. 15, p. 1190
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- Publication type:
- Article
A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Impaired autonomic control of the heart by SOX10 mutation.
- Published in:
- 2001
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- Publication type:
- Case Study
Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 325, doi. 10.1159/000479455
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- Publication type:
- Article
TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 182, doi. 10.1186/s13023-014-0182-9
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- Publication type:
- Article
Natural history of Barth syndrome: a national cohort study of 22 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-70
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- Publication type:
- Article
Natural history of Barth syndrome: a national cohort study of 22 patients.
- Published in:
- 2013
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- Publication type:
- journal article
GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 314, doi. 10.1002/ajmg.a.62503
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- Publication type:
- Article
Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 650, doi. 10.1002/ajmg.a.61057
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- Publication type:
- Article
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3114, doi. 10.1002/ajmg.a.38475
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- Publication type:
- Article
Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2522, doi. 10.1002/ajmg.a.38342
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- Publication type:
- Article
A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 654, doi. 10.1002/ajmg.a.38093
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- Publication type:
- Article
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 116, doi. 10.1002/ajmg.a.37384
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- Publication type:
- Article
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2025, doi. 10.1002/ajmg.a.36547
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- Publication type:
- Article
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
- Published in:
- Child's Nervous System, 2020, v. 36, n. 5, p. 961, doi. 10.1007/s00381-020-04551-4
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- Publication type:
- Article
Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0041616
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- Publication type:
- Article
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
- Published in:
- 2019
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- Publication type:
- Letter
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
- Published in:
- Developmental Medicine & Child Neurology, 2019, v. 61, n. 12, p. 1439, doi. 10.1111/dmcn.14332
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- Publication type:
- Article
Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 7, p. 957, doi. 10.1007/s00415-006-0134-y
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- Publication type:
- Article
X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90[suprsk2], RSK2, ISPK, MAPKAP1).
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 2, doi. 10.1038/sj.ejhg.5200738
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- Publication type:
- Article
Variability of the Aging Process in Dementia-Free Adults With Down Syndrome.
- Published in:
- American Journal on Intellectual & Developmental Disabilities, 2015, v. 120, n. 1, p. 3, doi. 10.1352/1944-7558-120.1.3
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- Publication type:
- Article
Epileptic spasms are associated with increased stereo‐electroencephalography derived functional connectivity in tuberous sclerosis complex.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 9, p. 2359, doi. 10.1111/epi.17353
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- Publication type:
- Article
Epileptogenicity in tuberous sclerosis complex: A stereoelectroencephalographic study.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 1, p. 81, doi. 10.1111/epi.16410
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- Publication type:
- Article
Use of a herpes thymidine kinase/neomycin phosphotransferase chimeric gene for metabolic suicide gene transfer.
- Published in:
- Cancer Gene Therapy, 2000, v. 7, n. 4, p. 574, doi. 10.1038/sj.cgt.7700153
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- Publication type:
- Article
Clinical heterogeneity of NADSYN1‐associated VCRL syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 114, doi. 10.1111/cge.14328
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- Publication type:
- Article
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 650, doi. 10.1111/cge.13918
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- Publication type:
- Article
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 43, doi. 10.1111/cge.13755
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- Publication type:
- Article
Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.
- Published in:
- BMC Research Notes, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13104-021-05526-7
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- Publication type:
- Article
Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome.
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 2, p. 168, doi. 10.1007/s10875-015-0129-5
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- Publication type:
- Article
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 2, p. 402, doi. 10.1002/ana.25941
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- Publication type:
- Article
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 1, p. 114, doi. 10.1002/ana.21579
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- Publication type:
- Article
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00464-w
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- Publication type:
- Article
AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1254, doi. 10.1002/jimd.12274
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- Publication type:
- Article
Y chromosome microdeletion screening in infertile men in France:a survey of French practice based on 88 IVF centres.
- Published in:
- Human Reproduction, 2004, v. 19, n. 4, p. 788, doi. 10.1093/humrep/deh157
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- Publication type:
- Article
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 309, doi. 10.1159/000448282
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- Publication type:
- Article
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149717
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- Publication type:
- Article
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1660, doi. 10.1002/humu.23343
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- Publication type:
- Article
Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16 A2/ MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation.
- Published in:
- Human Mutation, 2013, v. 34, n. 7, p. 1018, doi. 10.1002/humu.22331
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- Publication type:
- Article
Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 12, p. 1436, doi. 10.1002/humu.21583
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- Publication type:
- Article
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1110, doi. 10.1002/humu.21173
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- Publication type:
- Article
Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!
- Published in:
- ERJ Open Research, 2023, v. 9, n. 6, p. 1, doi. 10.1183/23120541.00472-2023
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- Publication type:
- Article
A novel de novo splicing mutation c.1444‐2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
- Published in:
- IUBMB Life, 2019, v. 71, n. 12, p. 1937, doi. 10.1002/iub.2134
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- Publication type:
- Article
Association of the IL-10 Receptor A536 G ( S138 G) Loss-of-Function Variant with Recurrent Miscarriage.
- Published in:
- American Journal of Reproductive Immunology, 2014, v. 72, n. 1, p. 1, doi. 10.1111/aji.12227
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- Publication type:
- Article
Plasminogen Activator Inhibitor 1 4G/5G and −844G/A Variants in Idiopathic Recurrent Pregnancy Loss.
- Published in:
- American Journal of Reproductive Immunology, 2013, v. 70, n. 3, p. 246, doi. 10.1111/aji.12116
- By:
- Publication type:
- Article
Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
- Published in:
- Neurogenetics, 2021, v. 22, n. 1, p. 43, doi. 10.1007/s10048-020-00629-y
- By:
- Publication type:
- Article
BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients.
- Published in:
- Molecular Neurobiology, 2012, v. 46, n. 2, p. 297, doi. 10.1007/s12035-012-8284-7
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- Publication type:
- Article
A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 354, doi. 10.1002/humu.1380050417
- By:
- Publication type:
- Article
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1449, doi. 10.1093/hmg/7.9.1449
- By:
- Publication type:
- Article