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1. Full Text Radial Ray Malformation
by Gandhi, Manisha and Rac, Martha W.F and McKinney, Jennifer and Society for Maternal-Fetal Medicine (SMFM) and Soc Maternal-Fetal Med SMFM
American journal of obstetrics and gynecology, ISSN 0002-9378, 12/2019, Volume 221, Issue 6, pp. B16 - B18
Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Genetic Testing | Humans | Congenital Bone Marrow Failure Syndromes - complications | Lower Extremity Deformities, Congenital - complications | Heart Septal Defects, Atrial - diagnosis | Thrombocytopenia - complications | Trisomy 18 Syndrome - complications | Trisomy 18 Syndrome - diagnosis | Thrombocytopenia - genetics | Heart Defects, Congenital - genetics | Microarray Analysis | Chorionic Villi Sampling | Heart Septal Defects, Atrial - genetics | Fanconi Anemia - genetics | Valproic Acid - adverse effects | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Thumb - diagnostic imaging | Carpal Bones - abnormalities | Fanconi Anemia - complications | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - complications | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Limb Deformities, Congenital - diagnostic imaging | Heart Defects, Congenital - diagnosis | Trisomy 13 Syndrome - diagnosis | Radius - diagnostic imaging | Limb Deformities, Congenital - genetics | Spine - abnormalities | Amniotic Band Syndrome - complications | Heart Septal Defects, Atrial - complications | Congenital Bone Marrow Failure Syndromes - genetics | Trisomy 13 Syndrome - complications | Female | Amniotic Band Syndrome - diagnosis | Carpal Bones - diagnostic imaging | Trachea - abnormalities | Amniocentesis | Trisomy 13 Syndrome - genetics | Diagnosis, Differential | Lower Extremity Deformities, Congenital - diagnosis | Radius - abnormalities | Esophagus - abnormalities | Upper Extremity Deformities, Congenital - complications | Upper Extremity Deformities, Congenital - genetics | Congenital Bone Marrow Failure Syndromes - diagnosis | Anal Canal - abnormalities | Pregnancy | Limb Deformities, Congenital - diagnosis | Fanconi Anemia - diagnosis | Ultrasonography, Prenatal | Trisomy 18 Syndrome - genetics | Limb Deformities, Congenital - complications | Thrombocytopenia - diagnosis | Thumb - abnormalities | Abnormalities, Drug-Induced - diagnosis | Index Medicus | Abridged Index Medicus
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2. Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies
by Bertino, Frederic and Braithwaite, Kiery A and Hawkins, C Matthew and Gill, Anne E and Briones, Michael A and Swerdlin, Rachel and Milla, Sarah S
Radiographics, 03/2019, Volume 39, Issue 2, p. 491
Vascular Malformations - diagnostic imaging | Klippel-Trenaunay-Weber Syndrome - diagnostic imaging | Humans | Musculoskeletal Abnormalities - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Lower Extremity - diagnostic imaging | Male | Proteus Syndrome - diagnostic imaging | Syndrome | Limb Deformities, Congenital - diagnostic imaging | Female | Lipoma - diagnostic imaging | Sturge-Weber Syndrome - diagnostic imaging | Nevus - diagnostic imaging
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3. Full Text Pathology of congenital Zika syndrome in Brazil: a case series
by Martines, Roosecelis Brasil, MD and Bhatnagar, Julu, PhD and de Oliveira Ramos, Ana Maria, Prof and Davi, Helaine Pompeia Freire, MD and Iglezias, Silvia D'Andretta, MD and Kanamura, Cristina Takami, MSc and Keating, M Kelly, DVM and Hale, Gillian, MD and Silva-Flannery, Luciana, PhD and Muehlenbachs, Atis, MD and Ritter, Jana, DVM and Gary, Joy, DVM and Rollin, Dominique, MD and Goldsmith, Cynthia S, MGS and Reagan-Steiner, Sarah, MD and Ermias, Yokabed, MPH and Suzuki, Tadaki, MD and Luz, Kleber G, Prof and de Oliveira, Wanderson Kleber, MSc and Lanciotti, Robert, PhD and Lambert, Amy, PhD and Shieh, Wun-Ju, MD and Zaki, Sherif R, Dr
The Lancet (British edition), ISSN 0140-6736, 2016, Volume 388, Issue 10047, pp. 898 - 904
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Pregnancy Trimester, Second | Limb Deformities, Congenital - virology | Pregnancy Complications, Infectious - virology | Neuroglia - pathology | Zika Virus Infection - congenital | Humans | Abortion, Spontaneous - virology | Brain - virology | Infant | Male | Microcephaly - virology | Pregnancy Trimester, First | Pregnancy Trimester, Third | Antigens, Viral - isolation & purification | Autopsy | Microcephaly - pathology | Fatal Outcome | Brazil | Adult | Female | RNA, Viral - isolation & purification | Zika Virus - immunology | Zika Virus Infection - pathology | Zika Virus - isolation & purification | Reverse Transcriptase Polymerase Chain Reaction | Pregnancy Complications, Infectious - pathology | Syndrome | Immunohistochemistry - methods | Pregnancy | Ultrasonography, Prenatal | Limb Deformities, Congenital - diagnostic imaging | Placenta - pathology | Brain - pathology | Neuroglia - virology | Placenta - virology | Virus diseases | Mosquitoes | Lung diseases | Birth defects | Conjunctivitis | Health aspects | Hyperthermia | Abortion | Fever | Zoonoses | Diseases | Disease transmission | Genetic disorders | Analysis | Pathology | Zika virus | Congenital diseases | Maternal & child health | Newborn babies | Health risk assessment | Index Medicus | Abridged Index Medicus
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4. Full Text Macrodactyly with a complex glomuvenous malformation in congenital lipomatous overgrowth with vascular malformations, epidermal naevi and skeletal anomalies (CLOVES) syndrome
by Song, Wangzhao and Kwee, Thomas C and Suurmeijer, Albert J
Histopathology, ISSN 0309-0167, 10/2018, Volume 73, Issue 4, pp. 705 - 708
Pathology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Vascular Malformations - diagnostic imaging | Paraganglioma, Extra-Adrenal - pathology | Glomus Tumor - pathology | Fingers - diagnostic imaging | Humans | Middle Aged | Male | Lipoma - pathology | Fingers - pathology | Vascular Malformations - pathology | Paraganglioma, Extra-Adrenal - diagnostic imaging | Nevus - pathology | Limb Deformities, Congenital - diagnostic imaging | Lipoma - congenital | Glomus Tumor - diagnostic imaging | Lipoma - diagnostic imaging | Fingers - abnormalities | Limb Deformities, Congenital - pathology | Nevus - diagnostic imaging | Genetic disorders | Congenital defects | Index Medicus
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5. Full Text Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges
by Benke, Paul J and Hidalgo, Ryan J and Braffman, Bruce H and Jans, Judith and Gassen, Koen L.I. van and Sunbul, Rawda and El-Hattab, Ayman W
Journal of child neurology, ISSN 0883-0738, 5/2017, Volume 32, Issue 6, pp. 543 - 549
microcephaly | seizures | spasticity | Neu-Laxova syndrome | PGDH | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Limb Deformities, Congenital - genetics | Abnormalities, Multiple - etiology | Fetal Growth Retardation - diagnostic imaging | Microcephaly - genetics | Seizures - genetics | Ichthyosis - etiology | Humans | Brain Diseases - genetics | Carbohydrate Metabolism, Inborn Errors - complications | Child, Preschool | Limb Deformities, Congenital - therapy | Family Health | Fetal Growth Retardation - genetics | Infant | Male | Psychomotor Disorders - complications | Serine - biosynthesis | Carbohydrate Metabolism, Inborn Errors - genetics | Seizures - complications | Seizures - diagnostic imaging | Young Adult | Psychomotor Disorders - genetics | Ichthyosis - diagnostic imaging | Brain Diseases - therapy | Fetal Growth Retardation - etiology | Ichthyosis - genetics | Female | Microcephaly - therapy | Brain Diseases - etiology | Carbohydrate Metabolism, Inborn Errors - diagnostic imaging | Psychomotor Disorders - diagnostic imaging | Abnormalities, Multiple - genetics | Microcephaly - complications | Abnormalities, Multiple - diagnostic imaging | Brain Diseases - diagnostic imaging | Microcephaly - diagnostic imaging | Mutation - genetics | Fetal Growth Retardation - therapy | Phosphoglycerate Dehydrogenase - genetics | Phenotype | Abnormalities, Multiple - therapy | Limb Deformities, Congenital - etiology | Adolescent | Limb Deformities, Congenital - diagnostic imaging | Microcephaly - etiology | Phosphoglycerate Dehydrogenase - deficiency | Ichthyosis - therapy | Index Medicus
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6. Full Text Moyamoya Disease in a Patient with VACTERL Association
by Hong, Christopher S and Wang, Anthony C and Bonow, Robert H and Abecassis, Isaac J and Amlie-Lefond, Catherine and Ellenbogen, Richard G
World neurosurgery, ISSN 1878-8750, 2016, Volume 89, pp. 729.e7 - 729.e10
Neurosurgery | Pial synangiosis | VACTERL | Indirect bypass | Moyamoya | Heart Defects, Congenital - surgery | Humans | Male | Spine - abnormalities | Heart Defects, Congenital - diagnostic imaging | Kidney - diagnostic imaging | Esophagus - diagnostic imaging | Limb Deformities, Congenital - surgery | Esophagus - surgery | Child | Moyamoya Disease - diagnostic imaging | Trachea - surgery | Trachea - abnormalities | Kidney - surgery | Magnetic Resonance Angiography | Moyamoya Disease - surgery | Trachea - diagnostic imaging | Esophagus - abnormalities | Moyamoya Disease - complications | Anal Canal - abnormalities | Magnetic Resonance Imaging | Spine - diagnostic imaging | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - diagnostic imaging | Anal Canal - surgery | Limb Deformities, Congenital - complications | Spine - surgery | Anal Canal - diagnostic imaging | Medical colleges | Birth defects | Genetic disorders | Cardiac patients | Surgery | Nervous system | Congenital heart disease | Diagnostic imaging | Seizures (Medicine) | Heart diseases | Health aspects | Index Medicus
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7. Full Text Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings
by Azakli, Hülya and Akkaya, Ayse Deniz and Aygün, Murat Serhat and Demirkesen, Cüyan and Eraslan, Serpil and Kayserili, Hülya
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 123 - 129
smooth muscle hamartoma | TODPD | hypopigmented patch | filamin A | digital fibroma | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Fingers - diagnostic imaging | Humans | Child, Preschool | Infant | Limb Deformities, Congenital - physiopathology | Fingers - physiopathology | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - physiopathology | Toes - diagnostic imaging | Osteochondrodysplasias - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Osteochondrodysplasias - diagnostic imaging | Filamins - genetics | Fingers - abnormalities | Bone Diseases, Developmental - diagnosis | Toes - physiopathology | Genetic Diseases, X-Linked - physiopathology | Pigmentation Disorders - physiopathology | Hypopigmentation - genetics | Pigmentation Disorders - diagnosis | Osteochondrodysplasias - diagnosis | Genetic Diseases, X-Linked - diagnosis | Pigmentation Disorders - genetics | Hand - physiopathology | Limb Deformities, Congenital - diagnosis | Hypopigmentation - physiopathology | Osteochondrodysplasias - physiopathology | Phenotype | Turkey - epidemiology | Bone Diseases, Developmental - diagnostic imaging | Limb Deformities, Congenital - diagnostic imaging | Hypopigmentation - diagnostic imaging | Pigmentation Disorders - diagnostic imaging | Mutation | Skin - physiopathology | Toes - abnormalities | Phenotypes | Splicing | Scalp | Bone dysplasia | Smooth muscle | Skeleton | Skin | Children | Neoplasia | Defects | Ossification | Index Medicus
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8. Full Text The risks following the exposure to radiation associated with the surgical correction of limb deformities in children are minimal
by Leaver, T and Johnson, B and Lampard, J and Aarvold, A and Uglow, M
The bone & joint journal, ISSN 2049-4394, 03/2019, Volume 101-B, Issue 3, pp. 241 - 245
Radiation dose | Children | Malignancy risk | Taylor spatial frame | Limb deformity | Tibia - radiation effects | Humans | Neoplasms, Radiation-Induced - etiology | Child, Preschool | Male | Femur - diagnostic imaging | Femur - abnormalities | Foot - diagnostic imaging | Tibia - abnormalities | Lower Extremity Deformities, Congenital - diagnostic imaging | Radiation Exposure - adverse effects | Female | Femur - surgery | Foot - radiation effects | Child | Databases, Factual | Risk Assessment | Risk Factors | Tibia - diagnostic imaging | Radiation Dosage | Femur - radiation effects | Tibia - surgery | Foot - surgery | Adolescent | Lower Extremity Deformities, Congenital - surgery | Neoplasms, Radiation-Induced - epidemiology | Dose-Response Relationship, Radiation | Index Medicus | Abridged Index Medicus
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9. Full Text Complex malformations involving the fetal body wall – definition and classification issues
by Bijok, Julia and Massalska, Diana and Kucińska‐Chahwan, Anna and Posiewka, Anna and Ilnicka, Alicja and Jakiel, Grzegorz and Roszkowski, Tomasz
Prenatal diagnosis, ISSN 0197-3851, 10/2017, Volume 37, Issue 10, pp. 1033 - 1039
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Neural Tube Defects - diagnostic imaging | Encephalocele - embryology | Heart Defects, Congenital - embryology | Humans | Neural Tube Defects - embryology | Intestines - embryology | Umbilical Cord - diagnostic imaging | Limb Deformities, Congenital - embryology | Liver - embryology | Chromosome Aberrations - embryology | Heart Defects, Congenital - diagnostic imaging | Liver - diagnostic imaging | Female | Retrospective Studies | Intestines - abnormalities | Congenital Abnormalities - embryology | Congenital Abnormalities - diagnostic imaging | Gestational Age | Urinary Bladder - abnormalities | Urinary Bladder - embryology | Pregnancy | Ultrasonography, Prenatal | Limb Deformities, Congenital - diagnostic imaging | Liver - abnormalities | Intestines - diagnostic imaging | Encephalocele - diagnostic imaging | Umbilical Cord - abnormalities | Pregnancy Outcome | Liver | Analysis | Limbs | Body wall | Vibration | Spine | Fetuses | Bladder | Defects | Urinary bladder | Animal behavior | Intestine | Classification | Arthropods | Umbilical cord | Aberration | Chromosome aberrations | Anomalies | Index Medicus
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10. Full Text Duplication of 10q24 locus: broadening the clinical and radiological spectrum
by Holder-Espinasse, Muriel and Jamsheer, Aleksander and Escande, Fabienne and Andrieux, Joris and Petit, Florence and Sowinska-Seidler, Anna and Socha, Magdalena and Jakubiuk-Tomaszuk, Anna and Gerard, Marion and Mathieu-Dramard, Michèle and Cormier-Daire, Valérie and Verloes, Alain and Toutain, Annick and Plessis, Ghislaine and Jonveaux, Philippe and Baumann, Clarisse and David, Albert and Farra, Chantal and Colin, Estelle and Jacquemont, Sébastien and Rossi, Annick and Mansour, Sahar and Ghali, Neeti and Moncla, Anne and Lahiri, Nayana and Hurst, Jane and Pollina, Elena and Patch, Christine and Ahn, Joo Wook and Valat, Anne-Sylvie and Mezel, Aurélie and Bourgeot, Philippe and Zhang, David and Manouvrier-Hanu, Sylvie
European journal of human genetics : EJHG, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 525 - 534
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Limb Deformities, Congenital - genetics | Humans | Child, Preschool | Infant | Limb Deformities, Congenital - physiopathology | Male | Young Adult | Wnt Proteins - genetics | Adult | Female | Hand Deformities, Congenital - diagnostic imaging | Genetic Predisposition to Disease | Segmental Duplications, Genomic - genetics | Proto-Oncogene Proteins - genetics | Comparative Genomic Hybridization - methods | Proteasome Endopeptidase Complex - genetics | Radiography | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Pedigree | Limb Deformities, Congenital - diagnostic imaging | Chromosomes, Human, Pair 10 - genetics | Gene Rearrangement - genetics | F-Box Proteins - genetics | Neonates | Phenotypes | Dysplasia | Hydrocephalus | Gene regulation | Heredity | Chromosome 3 | Chromosome 2 | Hypogonadism | Corpus callosum | Morphogenesis | Aplasia | Dlx5 protein | Chromosome 10 | Chromosome 12 | Bone (long) | Skin | Index Medicus | Life Sciences | Genetics | Human genetics | Developmental biology | Clinical genetics | Review
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11. Full Text Adams–Oliver syndrome review of the literature: Refining the diagnostic phenotype
by Hassed, Susan and Li, Shibo and Mulvihill, John and Aston, Christopher and Palmer, Susan
American journal of medical genetics. Part A, ISSN 1552-4825, 03/2017, Volume 173, Issue 3, pp. 790 - 800
DOCK6 | DLL4 | aplasia cutis congenita | NOTCH1 | EOGT | transverse terminal limb defects | Adams–Oliver syndrome | RBPJ | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Receptors, Notch - metabolism | Scalp Dermatoses - diagnosis | Humans | Male | cdc42 GTP-Binding Protein - metabolism | Scalp Dermatoses - metabolism | Ectodermal Dysplasia - metabolism | Female | Scalp Dermatoses - genetics | Scalp Dermatoses - congenital | Abnormalities, Multiple - genetics | Genetic Association Studies | Signal Transduction | Ectodermal Dysplasia - diagnosis | Limb Deformities, Congenital - metabolism | Diagnostic Imaging | Limb Deformities, Congenital - diagnosis | Phenotype | cdc42 GTP-Binding Protein - genetics | Abnormalities, Multiple - diagnosis | Ectodermal Dysplasia - genetics | Mutation | rac1 GTP-Binding Protein - metabolism | rac1 GTP-Binding Protein - genetics | Hypertension | Genetic aspects | Congenital heart disease | Genetic disorders | Phenotypes | Complications | Migration | Central nervous system | Population studies | Hemorrhage | Sclerosis | Defects | Esophagus | Literature reviews | Microencephaly | Aplasia | Skin | Index Medicus
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12. Full Text Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I
by Rattanasopha, Sawitree and Tongkobpetch, Siraprapa and Srichomthong, Chalurmpon and Kitidumrongsook, Pravit and Suphapeetiporn, Kanya and Shotelersuk, Vorasuk
Journal of medical genetics, ISSN 0022-2593, 12/2014, Volume 51, Issue 12, pp. 817 - 823
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genomic Imprinting | Sequence Deletion | Chromosome Breakpoints | Humans | Male | DNA Copy Number Variations | Organ Specificity - genetics | Female | Foot Deformities, Congenital - pathology | Genetic Linkage | Hand Deformities, Congenital - diagnostic imaging | Gene Expression | Limb Deformities, Congenital - metabolism | Transcription Factors - genetics | Homeodomain Proteins - genetics | Radiography | Limb Deformities, Congenital - diagnosis | Point Mutation | Phenotype | Comparative Genomic Hybridization | Pedigree | Heterozygote | Foot Deformities, Congenital - diagnostic imaging | Osteoblasts - metabolism | Hand Deformities, Congenital - pathology | Polymerase chain reaction | Usage | Linkage (Genetics) | Comparative genomic hybridization | Exome sequencing | Genetic aspects | Research | Osteoblasts | Risk factors | EEC syndrome | Index Medicus
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13. Full Text Challenges in the diagnosis of fetal non‐chromosomal abnormalities at 11–13 weeks
by Syngelaki, Argyro and Chelemen, Teodora and Dagklis, Themistoklis and Allan, Lindsey and Nicolaides, Kypros H
Prenatal diagnosis, ISSN 0197-3851, 01/2011, Volume 31, Issue 1, pp. 90 - 102
nuchal translucency | prenatal diagnosis | ultrasound | first‐trimester screening | fetal abnormalities | Nuchal translucency | First-trimester screening | Prenatal diagnosis | Fetal abnormalities | Ultrasound | Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | MEDLINE | Humans | Musculoskeletal Abnormalities - diagnostic imaging | Aneuploidy | Nervous System Malformations - diagnostic imaging | Congenital Abnormalities - diagnostic imaging | Gestational Age | Pregnancy | Heart Defects, Congenital - diagnostic imaging | Kidney - abnormalities | Ultrasonography, Prenatal | Nuchal Translucency Measurement | Limb Deformities, Congenital - diagnostic imaging | Female | Gastroschisis | Cerebellum | Heart | Hypoplasia | Fetuses | Lung | Gestation | Hand | Corpus callosum | Holoprosencephaly | Kidney | Clubfoot | Foot | Hernia | Spina bifida | Polydactyly | Skeleton | Index Medicus
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