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Ultrasound in Obstetrics and Gynecology, ISSN 0960-7692, 06/1998, Volume 11, Issue 6, pp. 391 - 400
Increased fetal nuchal translucency thickness at 10–14 weeks of gestation is a common phenotypic expression of fetal chromosomal defects, structural... 
Beckwith‐Wiedemann Syndrome | Cardiac Defects | Fryns' Syndrome | Joubert Syndrome | Noonan Syndrome | Fetal Abnormalities | Campomelic Dysplasia | Diaphragmatic Hernia | Smith‐Lemli‐Opitz Syndrome | Spinal Muscular Atrophy | Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome | Hydrolethalus Syndrome | Thanatophoric Dysplasia | Nuchal Translucency | Jarcho‐Levin Syndrome | Nance‐Sweeney Syndrome | Vacter Association | Zellweger Syndrome | Trigonocephaly ‘C’ | Body Stalk Anomaly | Achondrogenesis | Jeune Syndrome | 10–14‐Week Scan | Achondroplasia | Exomphalos | Akinesia Deformation Sequence | Roberts Syndrome | Skeletal Defects | Beckwith-Wiedemann syndrome | Hydrolethalus syndrome | Roberts syndrome | Nance-Sweeney syndrome | Joubert syndrome | Smith-Lemli-Opitz syndrome | 10-14-week scan | Fetal abnormalities | Jarcho-Levin syndrome | Body stalk anomaly | Jeune syndrome | Diaphragmatic hernia | Noonan syndrome | Skeletal defects | Campomelic dysplasia | Nuchal translucency | Fryns' syndrome | Cardiac defects | Ectrodactyly-ectodermal dysplasia-clefting syndrome | Akinesia deformation sequence | akinesia deformation sequence | LEMLI-OPITZ-SYNDROME | cardiac defects | achondroplasia | OBSTETRICS & GYNECOLOGY | MATERNAL AGE | ACOUSTICS | thanatophoric dysplasia | campomelic dysplasia | nuchal translucency | ULTRASOUND | CONGENITAL HEART-DISEASE | Zellweger syndrome | spinal muscular atrophy | 1ST TRIMESTER | 1ST-TRIMESTER DIAGNOSIS | CYSTIC HYGROMAS | FIRST-TRIMESTER DIAGNOSIS | body stalk anomaly | exomphalos | trigonocephaly 'C' | VACTER association | ectrodactyly ectodermal dysplasia clefting syndrome | hydrolethalus syndrome | skeletal defects | TRANSVAGINAL ULTRASONOGRAPHY | diaphragmatic hernia | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | fetal abnormalities | achondrogenesis | ABDOMINAL-WALL | Congenital Abnormalities - epidemiology | Prevalence | Neck - diagnostic imaging | Humans | Risk Factors | Reference Values | Fetal Diseases - diagnostic imaging | Congenital Abnormalities - diagnostic imaging | Gestational Age | Syndrome | Fetal Diseases - genetics | Pregnancy | Crown-Rump Length | Ultrasonography, Prenatal | Fetal Death - epidemiology | Fetal Diseases - epidemiology | Karyotyping | Adult | Female | Neck - embryology | United Kingdom - epidemiology | Pregnancy Outcome
Journal Article
Neurology, ISSN 0028-3878, 05/2013, Volume 80, Issue 20, pp. e207 - e210
Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal... 
PEROXISOME BIOGENESIS DISORDERS | GENE | CLINICAL NEUROLOGY | MUTATION | Neurology | Humans | Zellweger Syndrome - blood | Fatal Outcome | Zellweger Syndrome - genetics | Infant | Male | Zellweger Syndrome - diagnosis | Child | Resident and Fellow Section | 159
Journal Article
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 07/2017, Volume 24, Issue 7, p. 689
Journal Article
Forensic Science International, ISSN 0379-0738, 2015, Volume 255, pp. 89 - 95
Journal Article
Journal of Glaucoma, ISSN 1057-0829, 01/2018, Volume 27, Issue 1, pp. e21 - e23
Cerebro-costo-mandibular syndrome (CCMS) is a rare hereditary disorder characterized by micrognathia, posterior rib gaps, and secondary developmental delay.... 
angle closure | cerebra-costo-mandibular syndrome | aqueous misdirection | OPHTHALMOLOGY | Zellweger syndrome | Risk factors | Research
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2016, Volume 24, Issue 11, pp. 1565 - 1571
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2015, Volume 97, Issue 4, pp. 535 - 545
Journal Article
Journal Article