دانلود مقالات ISI درباره تاخیر رشد + ترجمه فارسی

Brief CommunicationGLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype

Keywords: تاخیر رشد; GLUT1-deficiency syndrome; Epilepsy; Genetics; Movement disorders; Developmental delay; Ketogenic diet;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2017 سفارش ترجمه

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum

Keywords: تاخیر رشد; transverse pontine fibers; anterior commissure; diffusion tensor imaging; axonal guidance disorder; ROBO1; magnetic resonance imaging; developmental delay;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation

Keywords: تاخیر رشد; 1p36.3 microduplication; Non-reciprocal translocation; Chromosomal rearrangement; Developmental delay; Familial transmission;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy

Keywords: تاخیر رشد; Alpha amino adipic semialdehyde dehydrogenase deficiency; Pyridoxine dependent epilepsy; Developmental delay; NAD+ binding domain; Catalytic domain; α-AASA; α-aminoadipic semialdehyde; ALDH7A1; α-aminoadipic semialdehyde dehydrogenase; NAD+; nicotinami

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Deficiency of succinyl-CoA synthetase α subunit delays development, impairs locomotor activity and reduces survival under starvation in Drosophila

Keywords: تاخیر رشد; Succinyl-CoA synthetase α subunit; SCS deficiency; Energy metabolism; Developmental delay; Glycogen breakdown;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization

Keywords: تاخیر رشد; CDPX2; X-linked dominant chondrodysplasia punctata-2; CHILD; congenital hemidysplasia with ichthyosiform erythroderma and limb defects; dHPLC; denaturing high-performance liquid chromatography; FF-MAS; follicular fluid-meiosis activating sterol; GC-FID; g

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

The Total Calvarial Transsutural Distraction Osteogenesis for 26 Children with Slit Ventricle, Craniosynostosis, or Microcephaly After Shunt Operation

Keywords: تاخیر رشد; Craniosynostosis; Distraction osteogenesis; Hydrocephalus; Shunt; Slit ventricle syndrome; CM; Chiari malformation; CT; Computed tomography; DD; Developmental delay; DO; Distraction osteogenesis; ICP; Intracranial pressure; ICU; Intensive care unit; LPP;

دانلود رایگان متن کامل مقاله ISI 30 صفحه سال انتشار : 2017 سفارش ترجمه

Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features

Keywords: تاخیر رشد; Deletion 2p11.2p12; CGH array; Bilateral choanal atresia; Atrial septal defect; Developmental delay; Facial anomalies; CTNNA2; LRRTM1; REEP1;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2016 سفارش ترجمه

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

Keywords: تاخیر رشد; 7p22.1 microdeletion; The beta-actin gene (ACTB); Baraitser-Winter syndrome 1 (BRWS1); Developmental delay; Short stature; Microcephaly;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

The Effect of Menstrual Issues on Young Women with Angelman Syndrome

Keywords: تاخیر رشد; Angelman syndrome; Developmental delay; Menstruation; Menses; Menstrual hygiene; Menstrual changes with seizures; Catamenial epilepsy; Dysmenorrhea; Premenstrual syndrome;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing

Keywords: تاخیر رشد; Infantile Epileptic Encephalopathy (EIEE); ZEB2; Mowat–Wilson syndrome (MWS); Seizures; Infantile spasms; Burst-suppression EEG pattern; Developmental delay; Cortical gray and white matter atrophy; Clinical exome sequencing

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family

Keywords: تاخیر رشد; PGAP2; Intellectual disability; Developmental delay; Epilepsy; Microcephaly;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Criterion Validation of the Scale of Psychomotor Development (SPMD) in Developmental Delay Study of Pre-school Children

Keywords: تاخیر رشد; developmental delay; validity; preschool assessment; pre-school children;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay

Keywords: تاخیر رشد; whole exome sequencing; genetics; CACNA1A; P/Q-type calcium channel; congenital hypotonia; developmental delay

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

Human GRIN2B variants in neurodevelopmental disorders

Keywords: تاخیر رشد; NMDA receptor; GluN2B/NR2B; Neuropsychiatric disorders; Developmental delay; Intellectual disability;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

The reliability and validity of the Greenspan Social Emotional Growth Chart (GSEGC) in Israeli children with developmental delay and autism—A pilot study

Keywords: تاخیر رشد; Greenspan Social–Emotional Growth Chart (GSEGC); Validity; Reliability; Autism spectrum disorder; Developmental delay

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2016 سفارش ترجمه

Risk and protective factors in early child development: Results from the All Our Babies (AOB) pregnancy cohort

Keywords: تاخیر رشد; Child development; Developmental delay; Risk and protective factors; Resiliency; Maternal mental health;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

Parent Training for Children With or at Risk for Developmental Delay: The Role of Parental Homework Completion

Keywords: تاخیر رشد; Parent-Child Interaction Therapy; homework; externalizing behavior problems; developmental delay; parenting stress

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2016 سفارش ترجمه

Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance

Keywords: تاخیر رشد; ACMG; American College of Medical Genetics and Genomics; ADI-R; Autism Diagnostic Interview-Revised; ADOS; Autism Diagnostic Observation Schedule; ANK; ankyrin repeat; ASD; autism spectrum disorder; BDNF; brain derived neurotrophic factor; BWA; Burrows-Wh

دانلود رایگان متن کامل مقاله ISI 36 صفحه سال انتشار : 2016 سفارش ترجمه

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis

Keywords: تاخیر رشد; 2p microdeletion syndrome; Microduplication; Chromosome 2; Developmental delay

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome

Keywords: تاخیر رشد; PTEN; Bannayan–Riley–Ruvalcaba syndrome; Arteriovenous malformation; Macrocephaly; Developmental delay; Autism spectrum disorder

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis

Keywords: تاخیر رشد; HOXB gene cluster; 17q21.32 deletion; Chromosomal microarray; Congenital bronchiectasis; Developmental delay

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion

Keywords: تاخیر رشد; ANKRD11; 16q24.3; KBG syndrome; Developmental delay; Intellectual disability; Short stature; Dysmorphism

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling

Keywords: تاخیر رشد; 17p13.3 copy number gain; Split hand malformation; Developmental delay; Autism; Prenatal diagnosis

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum

Keywords: تاخیر رشد; Exome sequencing; SPOCK1 mutation; Developmental delay; Microcephaly; Agenesis of corpus callosumMRI, Magnetic resonance imaging

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Zespół duplikacji MECP2 - opis przypadku

Keywords: تاخیر رشد; MECP2,Xq28; mikroduplikacja; opóźnienie rozwoju; nawracające infekcje; MECP2,Xq28; Microduplication; Developmental delay; Recurrent infections;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another

Keywords: تاخیر رشد; 6q Deletion; 6q Duplication; Developmental delay; Intellectual disability

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion

Keywords: تاخیر رشد; array-CGH; array comparative genomic hybridization; BAC; bacterial artificial chromosomes; DD; developmental delay; DWM; Dandy Walker malformation; FISH; fluorescence in situ hybridization; ID; intellectual disability; MCB; multicolor banding technique; O

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl

Keywords: تاخیر رشد; aCGH; array comparative genomic hybridization; DPP4; dipeptidyl-peptidase 4; EEG; electroencephalography; FAP; fibroblast activation protein alpha; FIGN; fidgetin; FISH; fluorescence in situ hybridization; GCA; granalcin; GCG; glucagon; IFIH1; interferon

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay

Keywords: تاخیر رشد; 17q21.33 microduplication; Scoliosis; Developmental delay; SGCA gene

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

SALL4 and NFATC2: Two major actors of interstitial 20q13.2 duplication

Keywords: تاخیر رشد; 20q13.2 Microduplication; Developmental delay; Dysmorphism; Cardiac malformation; SALL4; NFATC2

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه

Acquisition of sentence frame discrimination using the iPad™ as a speech generating device in young children with developmental disabilities

Keywords: تاخیر رشد; Autism Spectrum Disorder; Developmental delay; Speech generating device; iPad™; Tact;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه

Neonatal intrahippocampal HIV-1 protein Tat1–86 injection: neurobehavioral alterations in the absence of increased inflammatory cytokine activation

Keywords: تاخیر رشد; Tat1–86; gp120; HIV-1; Developmental delay; Cytokines; Neurotoxicity

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

Clinical, Neuroimaging, and Genetic Characteristics of Megalencephalic Leukoencephalopathy With Subcortical Cysts in Egyptian Patients

Keywords: تاخیر رشد; Van der Knaap disease; macrocephaly; megalencephalic leukodystrophy; subcortical cysts; MLC1 gene; GliaCAM gene; developmental delay

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

Keywords: تاخیر رشد; Severe SHM1; Congenital ataxia; Developmental delay; Acetazolamide response; Novel CACNA1A mutation; Gain of function;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2014 سفارش ترجمه

Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases

Keywords: تاخیر رشد; Developmental delay; Autism; invdup(15); Parental origin; Seizure; EEG

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2014 سفارش ترجمه

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Keywords: تاخیر رشد; BSP; 3-sulfopyruvate; CGH; comparative genomic hybridization; COOT; Crystallographic Object-Oriented Toolkit; DMEM; Dulbecco's Modified Eagle Medium; DTT; dithiothreitol; ECHO; echocardiogram; EC50; half maximal effective concentration; EEG; electroenceph

دانلود رایگان متن کامل مقاله ISI 43 صفحه سال انتشار : 2014 سفارش ترجمه

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases

Keywords: تاخیر رشد; Creatine deficiency; Treatment; MR spectroscopy; Developmental delay; Intellectual disability; Outcomes;

دانلود رایگان متن کامل مقاله ISI 44 صفحه سال انتشار : 2014 سفارش ترجمه

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion

Keywords: تاخیر رشد; Microarray; 4q Deletion; Developmental delay; Short stature syndrome;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?

Keywords: تاخیر رشد; 3q26.33-3q27.2 microdeletion syndrome; Abnormal dentition; Developmental delay; Growth retardation; Array-CGH;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

ADHD symptom prevalence and risk factors in a sample of toddlers with ASD or who are at risk for developmental delay

Keywords: تاخیر رشد; ADHD; Toddlers; Autism; Early intervention; Child development; Developmental trajectory; Developmental delay;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Assessment of developmental delay in the zebrafish embryo teratogenicity assay

Keywords: تاخیر رشد; AChE; acethylcolinesterase; DMSO; dimethyl sulfoxide; TMS; total morphological score; WEC; whole embryo culture; DTNB; 5,5′-dithiobis-(2-nitrobenzoic acid); hpf; hours post-fertilization; Acetylcholinesterase; Zebrafish embryo; Developmental delay; Tera

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2013 سفارش ترجمه

Original articleConfirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

Keywords: تاخیر رشد; Chromosomal microarray (CMA); Array-CGH; Developmental delay; Intellectual disability; Neurodevelopmental disorders; Autism spectrum disorders; Dysmorphic features; ASDs; autism spectrum disorders; CMA; chromosomal microarray; DD; developmental delay; ID;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2013 سفارش ترجمه

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15

Keywords: تاخیر رشد; Mb; megabase; SNP; single nucleotide polymorphism; ID; intellectual disability; HC; head circumference; SD; standard deviation; MRI; magnetic resonance imaging; FMR1; fragile X mental retardation 1; PCR; polymerase chain reaction; FISH; fluorescence in si

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2013 سفارش ترجمه

Developmental assessment in children

Keywords: تاخیر رشد; Pediatric milestones; Developmental screening; Developmental delay; Screening tool;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Clinicolaboratory profile of phenylketonuria (PKU) in Sohag University Hospital-Upper Egypt

Keywords: تاخیر رشد; Phenylketonuria (PKU); Phenylalanine (Phe); Seizures; Developmental delay; Autism; Hyperactivity

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Early detection of minor neurodevelopmental dysfunctions at age 6 months in prematurely born neonates

Keywords: تاخیر رشد; Bayley Scales of Infant Development; Developmental delay; Early intervention; Gestational age; Prematurity

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

“I Don't Want To Brush My Teeth!” The Case of an 8-Year-Old With Gingival Bleeding

Keywords: تاخیر رشد; ascorbic acid deficiency; developmental delay; scurvy; trisomy 21; vitamin C deficiency

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Paternal versus maternal coping styles with child diagnosis of developmental delay

Keywords: تاخیر رشد; Reaction to diagnosis of child's disability; Fathers and mothers; Developmental delay; Coping style

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Assessment and stability of early learning abilities in preterm and full-term infants across the first two years of life

Keywords: تاخیر رشد; Learning; Preterm; Assessment; Early intervention; Learning disability; Developmental delay; Cognitive delay

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2013 سفارش ترجمه