Alain Verloes
Articles 164
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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
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Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation
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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
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Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
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How to recognize Cowden syndrome: A novel PTEN mutation description.
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A framework to identify modifier genes in patients with Phelan-McDermid syndrome
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
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Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
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WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells
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ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
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ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
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Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases
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Acute lymphoblastic leukemia in the context of RASopathies
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Growth patterns of patients with Noonan syndrome: correlation with age and genotype
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Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities
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DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
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11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.
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Prenatal findings in cardio-facio-cutaneous syndrome.
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Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
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Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
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Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency
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Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder
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Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
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Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature
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Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
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Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory
Human - wd:Q66764566