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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
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2016, Volume 388, Issue 10047, pp. 898 - 904
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
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 09/2016, Volume 29, Issue 9, pp. 1111 - 1114
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
Journal Article
Neonatal network, ISSN 0730-0832, 03/2019, Volume 38, Issue 2, pp. 98 - 106
Journal Article