Keywords: هیپوتونیا; Williams syndrome; Elastin deficit; Neuromotor disorder; Hypotonia; Laryngeal biomechanics;
مقالات ISI هیپوتونیا (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: هیپوتونیا; Sepiapterin reductase deficiency; Hypotonia; Oculogyric crisis; CSF neurotransmitters;
Keywords: هیپوتونیا; Obstructive sleep apnea; Sleep-disordered breathing; Hypotonia; Pediatric; Drug-induced sleep endoscopy (DISE); Surgical outcomes;
Keywords: هیپوتونیا; Autism spectrum disorders; Abnormal gait; Toe walking; Passive joint mobility; Hypotonia
Keywords: هیپوتونیا; bone; Down syndrome; hypotonia; postural balance; ultrasound
Keywords: هیپوتونیا; Metabolic myopathy; Hypotonia; Autosomal recessive; Enzyme replacement therapy; Newborn screening; Lysosomal glycogen storage disease;
Keywords: هیپوتونیا; BSID-II; Bayley Scales of Infant Development 2nd edition; HHD; hand-held dynamometry; ICC; Intraclass correlation coefficient; IMS; infant muscle strength; IMS-meter; infant muscle strength meter; MMT; manual muscle testing; PWSMT; Prader Willi syndrome;
A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features
Keywords: هیپوتونیا; GNAO1; Decreased spontaneous movement; Dystonic features; Hypotonia;
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy
Keywords: هیپوتونیا; FAD synthase deficiency; FLAD1; Multiple acyl-CoA dehydrogenase deficiency; Respiratory chain deficiency; Hypotonia; Riboflavin;
Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review
Keywords: هیپوتونیا; Mastocytosis; Developmental delay; Hypotonia; Extrapyramidal symptoms; GNB1; Exome sequencing;
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases
Keywords: هیپوتونیا; ISCA2; Neurodevelopmental regression; Hypotonia; White matter; Mitochondrial disease; ISC; Iron-Sulfur Cluster; LAS; Lipoate Synthase; LBSL; Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation; MLD; Metachromatic Leukodys
Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet
Keywords: هیپوتونیا; Native American myopathy; Pierre Robin syndrome; congenital fiber type disproportion; congenital myopathy; hypotonia; malignant hyperthermia syndrome;
Programas de bipedestación para la prevención de la displasia de cadera en niños con sÃndrome de Down
Keywords: هیپوتونیا; SÃndrome de Down; Displasia de cadera; HipotonÃa; Posición de bipedestación; Down's syndrome; Hip dysplasia; Hypotonia; Standing position;
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report
Keywords: هیپوتونیا; Hypotonia; Ataxia; Hearing impairment; Recurrent infection; X-linked;
X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene
Keywords: هیپوتونیا; SMAX2; UBA1 gene; Arthrogryposis; Hypotonia; Arflexia; Congenital fractures;
Neonatal Hypotonia
Keywords: هیپوتونیا; Hypotonia; Congenital; Weakness; Muscular dystrophy; Myotonia; Syndrome;
A Case of Ehlers-Danlos Syndrome Type VIA With a Novel PLOD1 Gene Mutation
Keywords: هیپوتونیا; Ehlers-Danlos type VIA; novel mutation; vascular lesion; kyphoscoliosis; connective tissue disorder; hypotonia
Síndrome de Kabuki: una enfermedad con pronóstico heterogéneo
Keywords: هیپوتونیا; Síndrome de Kabuki; Retraso neurodesarrollo; Hipotonía; Tratamiento rehabilitadorKabuki syndrome; Neurodevelopmental delay; Hypotonia; Rehabilitation treatment
MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus
Keywords: هیپوتونیا; Monoamine oxidase (MAO); Serotonin; Short stature; Severe developmental delay; Hypotonia; Sudden loss of muscle tone
Charcot–Marie–Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication
Keywords: هیپوتونیا; Charcot–Marie–Tooth disease; Myelin protein zero; Copy number variant; Hypotonia; Microarray
Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia
Keywords: هیپوتونیا; Array-CGH; FISH; Hypotonia; PCR; Intellectuel disability; Xq27-qter functional disomy; Deletion 3p26.3
Original articleCranial magnetic resonance imaging findings of nutritional Vitamin B12 deficiency in 15 hypotonic infants
Keywords: هیپوتونیا; Cranial magnetic resonance imaging; Vitamin B12 deficiency; Hypotonia; Infant;
A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy
Keywords: هیپوتونیا; Congenital myotonic dystrophy; Myotubular myopathy; Hypotonia; Floppy infant; Muscleblind-like protein; MBNL1
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype
Keywords: هیپوتونیا; CIDEM; Center for Inherited Disorders of Energy Metabolism; CQ; cognitive quotient; DCA; dichloroacetate; MELAS; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; PDC; pyruvate dehydrogenase complex; TPP; thiamine pyrophosphat
Chromosomal imbalance letterDe novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia
Keywords: هیپوتونیا; Deletion; 2q24.2-24.3; Mental retardation; Hypotonia; Joint laxity;
21Â Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features
Keywords: هیپوتونیا; 13q interstitial deletion; Array-CGH; Rare genetic syndromes; Short stature; Growth hormone insufficiency; Psychomotor retardation; Hypertelorism; Broad nasal bridge; Short neck; Micrognathia; Thick helix; Hypotonia; Dysplastic ears;
Evaluation of the floppy infant
Keywords: هیپوتونیا; hypotonia; neuromuscular; neuropathy
Gait pattern in two rare genetic conditions characterized by muscular hypotonia: Ehlers–Danlos and Prader–Willi syndrome
Keywords: هیپوتونیا; Ehlers–Danlos; Prader–Willi; Gait analysis; Hypotonia; Joint stiffness
The role of store-operated calcium influx in skeletal muscle signaling
Keywords: هیپوتونیا; Skeletal muscle; Ca2+ entry; TRPC channels; SOCE; STIM1; Orai1; Musclular dystrophy; Hypotonia; Exercise; Gene expression
Genetic evaluation of the floppy infant
Keywords: هیپوتونیا; Array comparative genomic hybridization; DNA; Genetic; Hypotonia; Infant; Metabolic; Neonate;
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients
Keywords: هیپوتونیا; Xq22.1 deletion; Mental retardation; Behavioural disorders; Hypotonia; X-inactivation; NXF5; NXF2
Pompe's Disease in Childhood: A Metabolic Myopathy
Keywords: هیپوتونیا; Metabolic myopathy; Pompe's disease; Hypotonia; Cardiomegaly; Hepatomegaly; Acid alpha-glucosidase
Combined deficiency of peroxisomal β-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia
Keywords: هیپوتونیا; Peroxisome biogenesis disorders; Neuronal migration; Mouse model; Plasmalogens; Very long chain fatty acids; Hypotonia;
Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency – What have we learned?
Keywords: هیپوتونیا; Vitamin B12 deficiency; Breastfeeding; Failure to thrive; Hypotonia; Developmental delay; Methylmalonic aciduria; HyperhomocysteinemiaALT, Alanine aminotransferase; AST, Aspartate aminotranferase; Cbl, Vitamin B12 (cobalamin); Hb, Hemoglobin; MCV, Mean ce
Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader–Willi syndrome
Keywords: هیپوتونیا; RNA Editing; Serotonin receptor; Prader–Willi syndrome; Feeding behavior; Metabolism; Hyperphagia; Failure-to-thrive; Hypotonia
Rupture sclérale spontanée révélée par une maculopathie d'hypotonie
Keywords: هیپوتونیا; Hypotonie; Maculopathie; Rétinopathie; Rupture sclérale; Sclère; Spontanée; Colobome; Perforation; Hypotonia; Hypotony; Maculopathy; Retinopathy; Macular edema; Sclera; Scleral; Rupture; Spontaneous; Coloboma; Perforation;
The value of elecromyography in the aetiological diagnosis of hypotonia in infants and toddlers
Keywords: هیپوتونیا; Electromyography; Hypotonia; Infant; Neuromuscular diseasesÉlectromyographie; Hypotonie; Nourrisson; Maladies neuromusculaires
Evaluation of the floppy infant
Keywords: هیپوتونیا; hypotonia; neuromuscular; neuropathy
Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI)
Keywords: هیپوتونیا; Infant; Hypotonia; Scoliosis; Ehlers–Danlos syndrome
ZespóÅ delecji 22q13 w praktyce klinicznej i cytogenetycznej: opis nowego przypadku (zespóÅ Phelan i McDermid)
Keywords: هیپوتونیا; delecja 22q13; hipotonia; FISH; sonda N85A3; 22q13 deletion; hypotonia; FISH; N85A3 probe;
ZespoÅy subtelomerowych mikrodelecji w praktyce pediatrycznej: zespóÅ delecji 22q13
Keywords: هیپوتونیا; zespoÅy mikrodelecji; hipotonia; opóźnienie rozwoju mowy; delecja 22q13; microdeletion syndromes; hypotonia; speech delay; 22q13 deletion;
Prevalence of motor impairment in autism spectrum disorders
Keywords: هیپوتونیا; Autism spectrum disorders; Motor deficits; Hypotonia; Apraxia; Prevalence
Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson–Forssman–Lehmann Syndrome of intellectual disability and obesity
Keywords: هیپوتونیا; Phf6, Plant homeodomain finger gene 6; BFLS, Börjeson–Forssman–Lehmann Syndrome; Mental retardation; X-linked syndrome; PHD; Nucleus; Nuclear protein; Brain development; Cerebral cortex; Pituitary gland; Hypophysis; Spermatogenesis; Hypotonia; Facial abno
Anesthetic implications of Möbius syndrome
Keywords: هیپوتونیا; Möbius syndrome; Craniofacial syndrome; Cranial nerve palsy; Hypotonia
Factores que influyen en el desarrollo motor de los niños con sÃndrome de Down
Keywords: هیپوتونیا; Desarrollo; Desórdenes psicomotores; HipotonÃa; Laxitud; SÃndrome de Down; Development; Down syndrome; Hypotonia; Joint instability; Psychomotor disorders;
Desarrollo motor del niño con sÃndrome de Down y patologÃa osteoarticular asociada
Keywords: هیپوتونیا; Desarrollo; Desórdenes psicomotores; HipotonÃa; Laxitud; SÃndrome de Down; Development; Down Syndrome; Hypotonia; Joint instability; Psychomotor disorders;
Midbrain disconnection: An aetiology of severe central neonatal hypotonia
Keywords: هیپوتونیا; Newborn; Hypotonia; Respiratory abnormality; Pontocerebellar hypoplasia; Posterior fossa malformation;