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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 pediatrics, ISSN 0022-3476, 2014, Volume 164, Issue 3, pp. 458 - 462.e2
Pediatrics | Life Sciences & Biomedicine | Science & Technology | Facial Bones - abnormalities | Urogenital Abnormalities - epidemiology | Umbilical Arteries - abnormalities | Humans | Limb Deformities, Congenital - therapy | Male | Odontoid Process - abnormalities | Spine - abnormalities | Orthopedic Procedures | Female | Trachea - abnormalities | Neural Tube Defects - epidemiology | Sacrococcygeal Region - abnormalities | Linear Models | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Coccyx - abnormalities | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Heart Defects, Congenital - therapy | Thumb - abnormalities | Fistula, Tracheoesophageal | Medical genetics | Index Medicus | Abridged Index Medicus
Journal Article
Genetics in medicine, ISSN 1098-3600, 07/2018, Volume 20, Issue 7, pp. 745 - 753
fetal anomalies | GREB1L | exome sequencing | birth defects | de novo mutations | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Fetus - abnormalities | Limb Deformities, Congenital - genetics | Genomics | Humans | Fetus - pathology | Male | Stillbirth - genetics | Whole Exome Sequencing - methods | Kidney Diseases - genetics | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Adult | Female | Hydrocephalus - genetics | Neoplasm Proteins - genetics | Abnormalities, Multiple - genetics | Trachea - abnormalities | Kidney Diseases - congenital | Genotype | Esophagus - abnormalities | Anal Canal - abnormalities | Pregnancy | Phenotype | Kidney - abnormalities | Tracheoesophageal Fistula - genetics | Family | Mutation | Prenatal Diagnosis - methods | Urogenital Abnormalities - genetics | Index Medicus
Journal Article
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
Radiographics, ISSN 0271-5333, 03/2016, Volume 36, Issue 2, pp. 358 - 373
Life Sciences & Biomedicine | Radiology, Nuclear Medicine & Medical Imaging | Science & Technology | Bronchoscopy | Respiration Disorders - etiology | Humans | Congenital Abnormalities - embryology | Lung - abnormalities | Abnormalities, Multiple - diagnostic imaging | Tomography, X-Ray Computed | Bronchi - embryology | Trachea - diagnostic imaging | Congenital Abnormalities - diagnostic imaging | Trachea - embryology | Abnormalities, Multiple - embryology | Bronchi - abnormalities | Thoracic Surgery, Video-Assisted | Lung - embryology | Abnormalities, Multiple - classification | Imaging, Three-Dimensional | Bronchi - diagnostic imaging | Congenital Abnormalities - classification | Trachea - abnormalities
Journal Article
The Journal of craniofacial surgery, ISSN 1049-2275, 03/2018, Volume 29, Issue 2, pp. 372 - 375
Ear auricle | goldenhar syndrome | mandibulofacial dysostosis | Life Sciences & Biomedicine | Surgery | Science & Technology | Abnormalities, Multiple - pathology | Humans | Esophagus - abnormalities | Hearing Loss, Sensorineural | Mandibulofacial Dysostosis | Anal Canal - abnormalities | Spine - abnormalities | Ear, External - abnormalities | Branchial Region - abnormalities | Abnormalities, Multiple - therapy | Kidney - abnormalities | Heart Defects, Congenital | Abnormalities, Multiple - diagnosis | Anus, Imperforate | Thumb - abnormalities | Goldenhar Syndrome | Limb Deformities, Congenital | Trachea - abnormalities | Dentistry
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus | Index Medicus
Journal Article
Radiographics, ISSN 0271-5333, 2001, Volume 21, Issue 1, pp. 105 - 119
Journal Article
The New England journal of medicine, ISSN 0028-4793, 08/2017, Volume 377, Issue 6, pp. 544 - 552
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Limb Deformities, Congenital - genetics | Hydrolases - genetics | Humans | Male | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Niacin - therapeutic use | Heart Defects, Congenital - prevention & control | NAD - deficiency | NAD - biosynthesis | Female | Disease Models, Animal | Trachea - abnormalities | Hydrolases - metabolism | Limb Deformities, Congenital - prevention & control | NAD - genetics | Congenital Abnormalities - prevention & control | Esophagus - abnormalities | Sequence Analysis, DNA | Mice, Knockout | Anal Canal - abnormalities | Animals | Kidney - abnormalities | 3-Hydroxyanthranilate 3,4-Dioxygenase - genetics | Mice | Mutation | Dietary Supplements | 3-Hydroxyanthranilate 3,4-Dioxygenase - metabolism | Safety and security measures | Gene mutations | NAD (Coenzyme) | Dosage and administration | Birth defects | Research | Niacin | CRISPR | Dioxygenase | Enzymes | Congenital diseases | Congenital defects | Adenine | Tryptophan | Prenatal development | Gestation | Metabolism | Patients | Embryos | NAD | Metabolites | Vitamin B | Genetics | Nicotinamide | Supplementation | Index Medicus | Abridged Index Medicus
Journal Article
Paediatric respiratory reviews, ISSN 1526-0542, 02/2020, Volume 33, pp. 24 - 27
Congenital anomaly | Genetics | Laryngotracheoesophageal cleft | Respiratory System | Pediatrics | Life Sciences & Biomedicine | Science & Technology | Limb Deformities, Congenital - genetics | Ear Diseases - genetics | Ear - abnormalities | Humans | Hypertelorism - genetics | Hypospadias - genetics | Arthrogryposis - genetics | Esophagus - abnormalities | Pallister-Hall Syndrome - genetics | Larynx - abnormalities | Intellectual Disability - genetics | Anal Canal - abnormalities | Congenital Abnormalities - diagnosis | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Kidney - abnormalities | CHARGE Syndrome - genetics | Hypopituitarism - genetics | Craniofacial Abnormalities - genetics | DiGeorge Syndrome - genetics | Trachea - abnormalities | Index Medicus
Journal Article
International journal of dermatology, ISSN 0011-9059, 12/2014, Volume 53, Issue 12, pp. 1442 - 1446
Life Sciences & Biomedicine | Dermatology | Science & Technology | Wolf-Hirschhorn Syndrome | Humans | Abnormalities, Multiple | Esophagus - abnormalities | Hearing Loss, Sensorineural | Mandibulofacial Dysostosis | Congenital Abnormalities - pathology | Anal Canal - abnormalities | Spine - abnormalities | Congenital Abnormalities - surgery | Kidney - abnormalities | Heart Defects, Congenital | Anus, Imperforate | Ear Cartilage - surgery | Thumb - abnormalities | Goldenhar Syndrome | Limb Deformities, Congenital | Ear Cartilage - abnormalities | Trachea - abnormalities | Birth defects | Genetic disorders | Index Medicus
Journal Article