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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
The American journal of gastroenterology, ISSN 0002-9270, 2009, Volume 104, Issue 4, pp. 816 - 824
Epithelium - pathology | Cell Count | Humans | Epithelium - chemistry | Aneuploidy | Intestinal Mucosa - chemistry | Esophagus - chemistry | Precancerous Conditions - genetics | Goblet Cells - chemistry | Metaplasia | Esophagus - pathology | Barrett Esophagus - pathology | Flow Cytometry | Precancerous Conditions - chemistry | Biopsy | Precancerous Conditions - pathology | DNA, Neoplasm - analysis | Retrospective Studies | Goblet Cells - pathology | Barrett Esophagus - genetics | Intestinal Mucosa - pathology
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
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
The American journal of surgical pathology, ISSN 0147-5185, 11/2015, Volume 39, Issue 11, pp. 1558 - 1567
Nutcracker esophagus | Diffuse esophageal spasm | Increased intraepithelial lymphocytes | Lymphocytic esophagitis | Spongiosis | CD4-predominant | Pathology | Life Sciences & Biomedicine | Surgery | Science & Technology | Predictive Value of Tests | CD8-Positive T-Lymphocytes - pathology | Humans | Middle Aged | Male | CD4-Positive T-Lymphocytes - pathology | Esophagitis - pathology | CD4-Positive T-Lymphocytes - immunology | Esophageal Motility Disorders - etiology | Deglutition | Esophagus - physiopathology | Esophagitis - diagnosis | Adult | Female | Retrospective Studies | Biomarkers - analysis | Immunophenotyping | Esophagitis - complications | Esophagitis - immunology | Esophagus - pathology | Mucous Membrane - pathology | Mucous Membrane - immunology | Biopsy | Esophageal Motility Disorders - physiopathology | Esophagitis - physiopathology | Aged | Esophagus - immunology | CD8-Positive T-Lymphocytes - immunology | Index Medicus
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
Neurogastroenterology and motility, ISSN 1350-1925, 2009, Volume 21, Issue 8, pp. 796 - 806
high‐resolution manometry | distal oesophageal spasm | achalasia | nutcracker oesophagus | Nutcracker oesophagus | Achalasia | Distal oesophageal spasm | High-resolution manometry | Gastroenterology & Hepatology | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Deglutition | Esophageal Motility Disorders - classification | Algorithms | Humans | Esophageal Motility Disorders - diagnosis | Pressure | Manometry - methods | Topographical drawing | Index Medicus | high-resolution manometry
Journal Article
Gut, ISSN 0017-5749, 07/2001, Volume 49, Issue 1, pp. 145 - 151
Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Gastroenterology. Liver. Pancreas. Abdomen | Biological and medical sciences | Medical sciences | Other diseases. Semiology | Esophagus | Esophageal Motility Disorders - classification | Esophageal Spasm, Diffuse - physiopathology | Humans | Esophageal Achalasia - classification | Esophageal Motility Disorders - diagnosis | Esophageal Achalasia - physiopathology | Esophageal Spasm, Diffuse - classification | Esophageal Spasm, Diffuse - diagnosis | Scleroderma, Systemic - complications | Scleroderma, Systemic - physiopathology | Esophageal Motility Disorders - physiopathology | Adult | Esophageal Achalasia - diagnosis | Manometry - methods | Esophageal diseases | Motility | Diagnosis | Studies | Pain | Classification | Physiology | Dysphagia | Patients | Index Medicus | Abridged Index Medicus | Review
Journal Article