Keywords: ویژگی های غریزی; Global developmental delay (GDD); Dysmorphic features; Karyotyping; Down syndrome; Structural chromosomal abnormalities;
مقالات ISI ویژگی های غریزی (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.
HeterogennoÅÄ kliniczna zespoÅu Kabuki (zespóÅ Niikawy i Kurokiego) na podstawie opisu przypadku 15-letniej pacjentki z nawykowym zwichniÄciem rzepek
Keywords: ویژگی های غریزی; zespóÅ Kabuki; zespóÅ Niikawy i Kurokiego; niestabilnoÅÄ rzepek; dysmorfia; Kabuki syndrome; Niikawa-Kuroki syndrome; Luxating patella; Dysmorphic features;
NiedokrwistoÅÄ Blackfana i Diamonda z towarzyszÄ
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replikacjÄ
parwowirusa B19. Opis przypadku
Keywords: ویژگی های غریزی; niemowlÄ; anemia; niedokrwistoÅci wrodzone; cechy dysmorficzne; Infant; Anaemia; Congenital anaemia; Dysmorphic features;
Array report19q13.32 microdeletion syndrome: Three new cases
Keywords: ویژگی های غریزی; Copy number variants; 19q13.32 microdeletion; ARHGAP35; NPAS1; SLC8A2; NAPA; Intellectual disability; Dysmorphic features; Hypoplastic corpus callosum; SNP chromosomal microarray;
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
Keywords: ویژگی های غریزی; Congenital anomalies; Dysmorphic features; Intellectual disability; USP34; XPO1 or CRM1; 2p15p16.1 Deletion syndrome
De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features
Keywords: ویژگی های غریزی; Deletion 7p11.2; Psychomotor delay; Dysmorphic features; CHCHD2; GBAS; MRPS17; SEPT14; PSPH; CCT6A; SUMF2
Behavioural phenotype of a patient with a de novo 1.2Â Mb chromosome 4q25 microdeletion
Keywords: ویژگی های غریزی; SNP array; de novo 4q25 microdeletion; 4q25; Intellectual disability; Dysmorphic features; Behavioural phenotype; Neuropsychological phenotype;
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: ویژگی های غریزی; 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;
A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus
Keywords: ویژگی های غریزی; Terminal deletion 12p; Psychosis; Developmental delay; Dysmorphic features; Growth delay; Microcephaly; Malocclusion; Large incisors; Micrognatia; Long fingers; Hypermobile joints
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features
Keywords: ویژگی های غریزی; MBD5; Epilepsy; Mental retardation; Cognitive disability; 2q23.1 deletion; Dysmorphic features
A de novo 3.57Â Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy
Keywords: ویژگی های غریزی; SNP array; De novo microdeletion; 8q12.3q13.2; Intellectual disability; Dysmorphic features; Neuropsychological dysfunction; Epilepsy; ESES; CSWS;
Original article2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features
Keywords: ویژگی های غریزی; MBD5; Epilepsy; Mental retardation; Cognitive disability; 2q23.1 deletion; Dysmorphic features;
Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation
Keywords: ویژگی های غریزی; Array CGH; Developmental delay; Dysmorphic features; Microdeletion 2p15p16.1 syndrome
Dysmorphic features in 2-year-old IVF/ICSI offspring
Keywords: ویژگی های غریزی; Assisted reproductive techniques; IVF; Congenital abnormalities; Time to pregnancy; Dysmorphic features; ICSI
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome
Keywords: ویژگی های غریزی; 3q25.1–q25.32 deletion; Array-CGH; Developmental delay; Dysmorphic features
A de novo 0.57Â Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1
Keywords: ویژگی های غریزی; Array-CGH; De novo microdeletion; 11q13.1; Mental retardation; MEN1; Dysmorphic features; Autistic traits; Language disorder; NRXN1; PPP2R5B;
Syndrome de Klinefelter et syndrome de Turner : pour une meilleure prise en charge
Keywords: ویژگی های غریزی; Syndrome de Turner; Dysmorphie; Syndrome de Klinefelter; Dysgénésie gonadique; Petite et grande taille; Trouble cognitifs et retard de langage; Syndrome métabolique; Auto-immunité; MorbiditéTurner's syndrome; Dysmorphic features; Klinefelter's syndrome; G
Autism spectrum disorders associated with chromosomal abnormalities
Keywords: ویژگی های غریزی; Autism spectrum disorders; Chromosomal abnormalities; Mental retardation; Dysmorphic features; Minor physical anomalies; Genetics
Znaczenie kliniczne wczesnej diagnostyki zespoÅu Pradera-Williego - historia trzech chorych
Keywords: ویژگی های غریزی; zespóÅ Pradera-Williego; aberracja chromosomowa; delecja 15q11-q13; cechy dysmorficzne; Prader-Willi syndrome; chromosomal aberration; 15q11-q13 deletion; dysmorphic features;
WspóÅwystÄpowanie wad wrodzonych serca, rozszczepu podniebienia i innych cech dysmorficznych u dzieci jako przesÅanka diagnostyczna poszukiwania zespoÅów delecji 22q11.2
Keywords: ویژگی های غریزی; zespóÅ delecji 22q11.2; wrodzone wady serca; diagnostyka; cechy dysmorficzne; 22q11.2 deletion syndromes; congenital heart defects; diagnostics; dysmorphic features;
Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: Comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention
Keywords: ویژگی های غریزی; Fetal alcohol syndrome; Fetal alcohol spectrum disorders; Dysmorphic features; Maternal drinking; Prevention
Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin
Keywords: ویژگی های غریزی; Cardiac defect; Dysmorphic features; Duplication 19q; Deletion 19p; FISH; CGH; Pericentric inversion; Psychomotor retardation
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria
Keywords: ویژگی های غریزی; Branched-chain amino acids; Valine degradation; 3-Hydroxyisobutyryic aciduria; 3-Hydroxyisobutyrate dehydrogenase; HIBADH; Dysmorphic features
Variant arabe du syndrome de Kenny : Ã propos d'une famille maghrébine
Keywords: ویژگی های غریزی; Hypoparathyroïdie; déficit en GH; dysmorphie; Hypoparathyroidism; GH deficiency; dysmorphic features;