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Trisomy 21
Trisomy 21
Cytogenetical diagnosis in paraffin‐embedded fetoplacental tissue using comparative genomic hybridization
Genetics / Down Syndrome / Pregnancy / Humans / Placenta / Female / Nucleic acid hybridization / Prenatal / Karyotyping / Clinical Sciences / Trisomy 21 / Paraffin / Prenatal Diagnosis / Comparative Genomic Hybridization / Confidence Interval / Female / Nucleic acid hybridization / Prenatal / Karyotyping / Clinical Sciences / Trisomy 21 / Paraffin / Prenatal Diagnosis / Comparative Genomic Hybridization / Confidence Interval
Acute leukemia with t(10;11)(p11-p15;q13-q23)
Stem Cell / Acute Myeloid Leukemia / Humans / Female / Male / Middle Aged / Trisomy 21 / Adult / Immunophenotyping / Acute Lymphocytic Leukemia / Middle Aged / Trisomy 21 / Adult / Immunophenotyping / Acute Lymphocytic Leukemia
Complete trisomy 9 in a term fetus: A case report
Pregnancy / Case Report / Humans / Female / Amniocentesis / Newborn Infant / Trisomy 21 / Gestational Age / Umbilical Cord / Fetal death / Newborn Infant / Trisomy 21 / Gestational Age / Umbilical Cord / Fetal death
Pure interstitial dup(6)(q22.31q22.31) ¿ a case report
Humans / Male / Developmental disabilities / Gene Duplication / Pedigree / Phenotype / Trisomy 21 / Consanguinity / Phenotype / Trisomy 21 / Consanguinity
Case Report Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
Genetics / Molecular Genetics / Language disorders / Case Report / Humans / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / Trisomy 21 / Family Health / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / Trisomy 21 / Family Health
Trisomy 16p: A longitudinal profile and photo essay
Genetics / Adolescent / Humans / Child / Microcephaly / Male / Infant / Developmental disabilities / Follow-up studies / Karyotyping / Clinical Sciences / Newborn Infant / Trisomy 21 / Adult / Male / Infant / Developmental disabilities / Follow-up studies / Karyotyping / Clinical Sciences / Newborn Infant / Trisomy 21 / Adult
Distal monosomy 18p/distal trisomy 20p?A recognizable facial phenotype?
Genetics / Molecular Biology / Face / Cytogenetics / Humans / Male / Developmental disabilities / Distal / American / Phenotype / Clinical Sciences / Trisomy 21 / Facies / Nino / Male / Developmental disabilities / Distal / American / Phenotype / Clinical Sciences / Trisomy 21 / Facies / Nino
Distal monosomy 18p/distal trisomy 20p—A recognizable facial phenotype?
Genetics / Molecular Biology / Face / Cytogenetics / Humans / Male / Developmental disabilities / Distal / American / Phenotype / Clinical Sciences / Trisomy 21 / Facies / Nino / Male / Developmental disabilities / Distal / American / Phenotype / Clinical Sciences / Trisomy 21 / Facies / Nino
Case Report Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
Genetics / Molecular Genetics / Language disorders / Case Report / Humans / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / Trisomy 21 / Family Health / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / Trisomy 21 / Family Health
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review
Genetics / Intellectual Disability / Mental Retardation / Case Report / Humans / Fluorescence in situ hybridization / Female / Aneuploidy / Clinical Sciences / Trisomy 21 / Child preschool / Chromosome 22q11 deletion / Fluorescence in situ hybridization / Female / Aneuploidy / Clinical Sciences / Trisomy 21 / Child preschool / Chromosome 22q11 deletion
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences
Genetics / Regeneration / Humans / Pancreas / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / European / Trisomy 21 / Adult / Prenatal Diagnosis / Developmental delay / Wilms' tumor / Chromosome Banding / Pancreatic islets / Child preschool / Chromosome 22q11 deletion / Male / Infant / Karyotyping / Pedigree / Phenotype / European / Trisomy 21 / Adult / Prenatal Diagnosis / Developmental delay / Wilms' tumor / Chromosome Banding / Pancreatic islets / Child preschool / Chromosome 22q11 deletion
Cytogenetical diagnosis in paraffin‐embedded fetoplacental tissue using comparative genomic hybridization
Genetics / Down Syndrome / Pregnancy / Humans / Placenta / Female / Nucleic acid hybridization / Prenatal / Karyotyping / Clinical Sciences / Trisomy 21 / Paraffin / Prenatal Diagnosis / Comparative Genomic Hybridization / Confidence Interval / Female / Nucleic acid hybridization / Prenatal / Karyotyping / Clinical Sciences / Trisomy 21 / Paraffin / Prenatal Diagnosis / Comparative Genomic Hybridization / Confidence Interval
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