Keywords: ریزش مو; Costello syndrome; Dysmorphism; Nutritional status; Failure to thrive;
مقالات ISI ریزش مو (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.
Clinical ObservationsMales With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers
Keywords: ریزش مو; atypical Rett syndrome; C-terminus MECP2; dysmorphism; social consequences of affected mothers;
Case reportSevere hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy
Keywords: ریزش مو; Type I collagenopathy; COL1A1; Whole-exome sequencing; Dysmorphism; Osteogenesis imperfecta;
Disruption of SOX6 Is Associated With a Rapid-Onset Dopa-Responsive Movement Disorder, Delayed Development, and Dysmorphic Features
Keywords: ریزش مو; dystonia; dopa-responsive dystonia; athetosis; dysarthria; levodopa; dysmorphism; development; SOX6; neuronal differentiation;
DYRK1A mutations in two unrelated patients
Keywords: ریزش مو; DYRK1A mutation; Dysmorphism; Intellectual disability; Autism spectrum disorder
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion
Keywords: ریزش مو; ANKRD11; 16q24.3; KBG syndrome; Developmental delay; Intellectual disability; Short stature; Dysmorphism
Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care
Keywords: ریزش مو; 22q11.2 deletion syndrome (22q11.2DS); Conotruncal anomaly; Congenital heart disease; Chinese; Adult; Dysmorphism
SALL4 and NFATC2: Two major actors of interstitial 20q13.2 duplication
Keywords: ریزش مو; 20q13.2 Microduplication; Developmental delay; Dysmorphism; Cardiac malformation; SALL4; NFATC2
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: ریزش مو; 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
A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features – Is cardiac assessment necessary for all patients with 17p13.3 microduplication?
Keywords: ریزش مو; Chromosome 17p13.3; Microduplication; Chromosome aberration; Array comparative genomic hybridization; Dysmorphism; Microcephaly; Aortic stenosis
Short reportA 1Â Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome: Report, antenatal findings and review
Keywords: ریزش مو; Prenatal; Overgrowth syndrome; Dysmorphism; GPC3 gene; Ultrasound;
Characterization of sSMC by FISH and molecular techniques
Keywords: ریزش مو; Array-CGH; Dysmorphism; FISH; Supernumerary marker chromosome;
TrudnoÅci w diagnostyce klinicznej mukopolisacharydoz - historia trzech przypadków
Keywords: ریزش مو; mukopolisacharydozy; choroby spichrzeniowe; dymorfizm; diagnostyka mukopolisacharydoz; mucopolisaccharydoses; storage diseases; dysmorphism; mucopolisaccharydoses diagnosis;
Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces
Keywords: ریزش مو; Automated pattern recognition; Computer-assisted diagnosis; Classification; Dysmorphism; Face
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation
Keywords: ریزش مو; Dysmorphism; Multiple renal cysts; Abnormal minora labia; Asymmetric lower limbs; Mental retardation; COL4A4; COL4A3; TRIP12
Indication d'une consultation orthodontique chez un enfant présentant des troubles du sommeil
Keywords: ریزش مو; Orthodontiste; ronflement; apnées obstructives; enfant; dysmorphies; dyspraxies; Orthodontist; snoring; obstructive apneas; children; dysmorphism; dyspraxia;
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: A case with severe phenotypic features followed for 25 years
Keywords: ریزش مو; Ring chromosome 20; Epilepsy; Chromosomal anomaly; Dysmorphism; Mental retardation
Anaesthetic considerations for syndromic children undergoing eye surgery
Keywords: ریزش مو; Congenital syndromes; Dysmorphism; Laryngotracheomalacia; Laryngeal mask airways; Malignant hyperthermia; Neuromuscular disease; Total intravenous anaesthesia; Congenital heart disease
Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism
Keywords: ریزش مو; Chromosome; Epilepsy; Dysmorphism;