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A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz SyndromeThe 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Mild Campomelic Dysplasia: Report on a Case and ReviewTreatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and ReviewBardet-Biedl SyndromeCytogenomic Aberrations in Congenital Cardiovascular MalformationsStüve-Wiedemann Syndrome: Update on Clinical and Genetic AspectsSHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short StatureInvolvement of Fibroblast Growth Factors and Their Receptors in Epididymo-Testicular Descent and MaldescentMechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsUpdate on the genetics of bardet-biedl syndromeArthrogryposis as a Syndrome: Gene Ontology AnalysisDisorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesGenetic Basis of Brain MalformationsPrimary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and TreatmentSilver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologySeizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune AspectsThe Family of Crumbs Genes and Human DiseaseUnderstanding Genotypes and Phenotypes in Epileptic EncephalopathiesConnecting the CNTNAP2 Networks with Neurodevelopmental DisordersNeuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of SkillsIdentical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter - Case Report.The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations.Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders.Pitt-Hopkins Syndrome.Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.Noonan syndrome: clinical aspects and molecular pathogenesis.Periventricular heterotopia in common microdeletion syndromesA microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally.Clinical presentations of coenzyme q10 deficiency syndromePathomechanisms in coenzyme q10-deficient human fibroblasts.Coenzyme q10 therapyBiochemical diagnosis of coenzyme q10 deficiency.An overview of current mouse models recapitulating coenzyme q10 deficiency syndromeCoenzyme q and the respiratory chain: coenzyme q pool and mitochondrial supercomplexesA Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in HumansIRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
P1433
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P1433
description
journal
@en
revista científica
@es
rivista scientifica
@it
wetenschappelijk tijdschrift van Karger Publishers
@nl
wissenschaftliche Fachzeitschrift
@de
name
Molecular syndromology
@ast
Molecular syndromology
@en
Molecular syndromology
@es
Molecular syndromology
@it
Molecular syndromology
@nl
type
label
Molecular syndromology
@ast
Molecular syndromology
@en
Molecular syndromology
@es
Molecular syndromology
@it
Molecular syndromology
@nl
prefLabel
Molecular syndromology
@ast
Molecular syndromology
@en
Molecular syndromology
@es
Molecular syndromology
@it
Molecular syndromology
@nl
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