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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
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 56 - 56
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Radius - pathology | Kidney - pathology | Humans | Male | Tracheoesophageal Fistula - complications | Anus, Imperforate - pathology | Spine - abnormalities | Heart Defects, Congenital - genetics | Abnormalities, Multiple - epidemiology | Female | Spine - pathology | Anal Canal - pathology | Abnormalities, Multiple - genetics | Anus, Imperforate - diagnosis | Infant, Newborn | Trachea - abnormalities | Tracheoesophageal Fistula - epidemiology | Anus, Imperforate - complications | Heart Defects, Congenital - pathology | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Trachea - pathology | Limb Deformities, Congenital - diagnosis | Esophagus - pathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Abnormalities, Multiple - diagnosis | Anus, Imperforate - genetics | Tracheoesophageal Fistula - genetics | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Anus, Imperforate - epidemiology | Limb Deformities, Congenital - pathology | Care and treatment | Genetic aspects | Prognosis | Diagnosis | VATER syndrome | Index Medicus
Journal Article
The Journal of hand surgery, European volume, ISSN 1753-1934, 11/2014, Volume 39, Issue 9, pp. 958 - 965
prevalence | congenital hand | Dorsal dimelia | foot | Life Sciences & Biomedicine | Orthopedics | Surgery | Science & Technology | Heart Defects, Congenital - classification | Prospective Studies | Hand Deformities - classification | Humans | Child, Preschool | Hand Deformities, Congenital - classification | Infant | Male | Hand Deformities, Congenital - diagnosis | Spine - abnormalities | Ectromelia - diagnosis | Limb Deformities, Congenital - classification | Female | Child | Foot Deformities, Congenital - epidemiology | Hand Deformities - diagnosis | Trachea - abnormalities | Hand Deformities, Congenital - epidemiology | Cross-Sectional Studies | Foot Deformities, Congenital - diagnosis | Ectromelia - classification | Esophagus - abnormalities | Syndrome | Foot Deformities, Congenital - classification | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Phenotype | Hand Deformities - epidemiology | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Ectromelia - epidemiology | Thumb - abnormalities | Index Medicus
Journal Article
Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Nerve Tissue Proteins | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Membrane Proteins | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology | Index Medicus | small phalanges | UBE3B | Kaufman oculo-cerebro-facial syndrome | DOORS | whole exome sequencing
Journal Article
BMC musculoskeletal disorders, ISSN 1471-2474, 07/2018, Volume 19, Issue 1, pp. 262 - 262
Cross-sectional study | Nationwide survey | Birth prevalence | Congenital limb deficiency | Epidemiology | Life Sciences & Biomedicine | Orthopedics | Rheumatology | Science & Technology | Upper Extremity Deformities, Congenital - surgery | Japan - epidemiology | Age Distribution | Prevalence | Cross-Sectional Studies | Humans | Child, Preschool | Infant | Lower Extremity Deformities, Congenital - diagnosis | Male | Lower Extremity Deformities, Congenital - epidemiology | Upper Extremity Deformities, Congenital - diagnosis | Health Surveys | Time Factors | Sex Distribution | Female | Lower Extremity Deformities, Congenital - surgery | Upper Extremity Deformities, Congenital - epidemiology | Child | Infant, Newborn | Genetic aspects | Research | Analysis | Abnormalities | Extremities (Anatomy) | Prostheses | Limbs | Congenital diseases | Pancreatitis | Births | Patients | Defects | Confidence intervals | Sex ratio | Hospitals | Surgery | Cooperation | Response rates | Fingers & toes | Index Medicus
Journal Article
The Veterinary clinics of North America. Equine practice, ISSN 0749-0739, 08/2017, Volume 33, Issue 2, pp. 353 - 366
Transphyseal bridge | Angular limb deformity | Transphyseal screw | Foal | Life Sciences & Biomedicine | Veterinary Sciences | Science & Technology | Animals, Newborn | Horse Diseases - diagnosis | Horse Diseases - surgery | Sutures - veterinary | Epiphyses - growth & development | Epiphyses - surgery | Bone Wires - veterinary | Equidae | Bone Screws - veterinary | Limb Deformities, Congenital - diagnosis | Tarsus, Animal - abnormalities | Animals | Horses | Limb Deformities, Congenital - veterinary | Limb Deformities, Congenital - complications | Limb Deformities, Congenital - surgery | Tarsus, Animal - surgery
Journal Article
Medical archives (Sarajevo, Bosnia and Herzegovina), ISSN 0350-199X, 10/2018, Volume 72, Issue 4, pp. 292 - 294
Heart Septal Defects, Atrial - surgery | Upper Extremity Deformities, Congenital - surgery | Rare Diseases - surgery | Heart Defects, Congenital - surgery | Humans | Rare Diseases - diagnosis | Lower Extremity Deformities, Congenital - diagnosis | Treatment Outcome | Lower Extremity Deformities, Congenital - complications | Upper Extremity Deformities, Congenital - complications | Heart Septal Defects, Atrial - diagnosis | Abnormalities, Multiple - surgery | Crohn Disease - therapy | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - complications | Heart Septal Defects, Atrial - complications | Abnormalities, Multiple - diagnosis | Crohn Disease - diagnosis | Adult | Female | Heart Defects, Congenital - diagnosis | Lower Extremity Deformities, Congenital - surgery | Crohn Disease - etiology | Arms | Birth defects | Congenital diseases | Chromosomes | Crohns disease | Cardiac-limb syndrome | Case Report | Holt-Oram syndrome | Crohn’s disease
Journal Article
The Veterinary clinics of North America. Equine practice, ISSN 0749-0739, 08/2017, Volume 33, Issue 2, p. 343
Life Sciences & Biomedicine | Veterinary Sciences | Science & Technology | Animals, Newborn | Hoof and Claw - surgery | Horse Diseases - diagnosis | Tarsal Bones - abnormalities | Risk Factors | Joint Instability - veterinary | Limb Deformities, Congenital - therapy | Horse Diseases - etiology | Carpus, Animal - abnormalities | Horse Diseases - therapy | Limb Deformities, Congenital - diagnosis | Tarsus, Animal - abnormalities | Animals | Tarsal Bones - pathology | Horses | Limb Deformities, Congenital - veterinary | Limb Deformities, Congenital - complications | Hoof and Claw - abnormalities | Joint Instability - complications | Osteogenesis | Physical Conditioning, Animal
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2411 - 2417
arthrogryposis | dolichyl‐phosphate alpha‐N‐acetylglucosaminyltransferase | Congenital disorder of glycosylation type IJ | Arthrogryposis | Dolichyl-phosphate alpha-N-acetylglucosaminyltransferase | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Cleft Palate - diagnosis | Limb Deformities, Congenital - genetics | Humans | Molecular Sequence Data | N-Acetylglucosaminyltransferases - genetics | Hydrocephalus - pathology | Cleft Palate - genetics | Mutation, Missense | Contracture - genetics | Congenital Disorders of Glycosylation - pathology | Arthrogryposis - diagnosis | Contracture - complications | Female | Arthrogryposis - pathology | Hydrocephalus - genetics | Abnormalities, Multiple - genetics | Congenital Disorders of Glycosylation - genetics | Infant, Newborn | Amino Acid Sequence | Diagnosis, Differential | Gene Expression | Hydrocephalus - diagnosis | Contracture - pathology | Arthrogryposis - complications | Hydrocephalus - complications | Arthrogryposis - genetics | Congenital Disorders of Glycosylation - complications | Limb Deformities, Congenital - diagnosis | Sequence Alignment | Contracture - diagnosis | Abnormalities, Multiple - diagnosis | Cleft Palate - pathology | Cleft Palate - complications | Limb Deformities, Congenital - complications | Congenital Disorders of Glycosylation - diagnosis | Limb Deformities, Congenital - pathology | Genetic disorders | Cataracts | Cerebellum | Transferrin | Congenital diseases | Akinesia | Fetuses | Glycosylation | Pregnancy | Myelination | Missense mutation | Magnetic resonance imaging | Etiology | Differential diagnosis | Isoelectric focusing | Index Medicus
Journal Article
2020, ISBN 9811396035, 772
eBook
1/2019, Volume 44, Issue 1, 11
limb development | Congenital upper limb anomalies | genetics | classification | mechanisms | Life Sciences & Biomedicine | Orthopedics | Surgery | Science & Technology | Upper Extremity Deformities, Congenital - diagnosis | Phenotype | Humans | Upper Extremity Deformities, Congenital - classification | Mutation | Upper Extremity Deformities, Congenital - genetics | Communication | Index Medicus
Book Review
Neonatal network, ISSN 0730-0832, 03/2019, Volume 38, Issue 2, pp. 98 - 106
Pediatrics and Neonatal | Critical Care, Acute Care, and Emergency | Nursing | Advanced Practice | Women's Health, Obstetrics, and Midwifery | Anal atresia | Limb malformations | Vertebral malformations | Esophageal atresia | Situs inversus | Renal malformations | Cardiac defects | Congenital malformations | Tracheoesophageal fistula | Aftercare - methods | Physical Examination - methods | Humans | Vestibulocochlear Nerve Diseases - congenital | Limb Deformities, Congenital - therapy | Limb Deformities, Congenital - physiopathology | Patient Care Management - methods | Spine - abnormalities | Esophagus - physiopathology | Radiography, Abdominal - methods | Situs Inversus - diagnosis | Anal Canal - physiopathology | Female | Situs Inversus - therapy | Vestibulocochlear Nerve Diseases - diagnosis | Trachea - physiopathology | Infant, Newborn | Kidney - physiopathology | Trachea - abnormalities | Diagnosis, Differential | Respiratory Distress Syndrome, Newborn - diagnosis | Situs Inversus - complications | Spine - physiopathology | Neonatal Screening - methods | Esophagus - abnormalities | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Situs Inversus - physiopathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Radiography, Thoracic - methods | Heart Defects, Congenital - physiopathology | Heart Defects, Congenital - therapy
Journal Article
Journal of pediatric orthopaedics, ISSN 0271-6798, 05/2018, Volume 38, Issue 5, pp. 266 - 273
patellofemoral instability | knee joint | Down syndrome | Pediatrics | Life Sciences & Biomedicine | Orthopedics | Science & Technology | Patellofemoral Joint - diagnostic imaging | Humans | Orthopedic Procedures - methods | Male | Limb Deformities, Congenital - diagnosis | Outcome and Process Assessment (Health Care) | Growth Plate | Radiography - methods | Adolescent | Down Syndrome - complications | Patellofemoral Joint - abnormalities | Female | Limb Deformities, Congenital - complications | Retrospective Studies | Orthopedic Procedures - statistics & numerical data | Child | Knee | Complications and side effects | Care and treatment | Medical examination | Abnormalities | Physiological aspects | Pediatric orthopedics | Diagnosis | Hypermobility | Pediatric research | Joints | Index Medicus
Journal Article