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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 515 - 523
Journal Article
Journal Article
Journal Article
Indian Heart Journal, ISSN 0019-4832, 2012, Volume 64, Issue 4, pp. 408 - 411
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2008, Volume 9, Issue 1, pp. 92 - 92
Journal Article
A & A case reports, ISSN 2325-7237, 03/2017, Volume 8, Issue 5, pp. 119 - 121
Jeune syndrome is a rare autosomal-recessive skeletal disorder. Anesthetic management of these patients is often difficult because of thoracic and lung... 
Continuous Positive Airway Pressure - methods | Ellis-Van Creveld Syndrome - therapy | Anesthesia, General - methods | Humans | Infant | Male | Oxygen Inhalation Therapy - methods | Radiography, Thoracic | Ellis-Van Creveld Syndrome - diagnostic imaging | Tracheotomy - methods
Journal Article
ARCHIVOS ARGENTINOS DE PEDIATRIA, ISSN 0325-0075, 12/2015, Volume 113, Issue 6, pp. E357 - E362
Asphyxiating Thoracic Dysplasia is an uncommon condition with multiple organ afectation and high neonatal mortality. It presents with short stature, short... 
DYNC2H1 MUTATIONS | DYSTROPHY | PEDIATRICS | growth | body height | asphyxiating thoracic dysplasia | Jeune syndrome | Thorax - pathology | Thorax - diagnostic imaging | Humans | Child, Preschool | Female | Male | Retrospective Studies | Ellis-Van Creveld Syndrome - pathology | Ellis-Van Creveld Syndrome - diagnostic imaging
Journal Article
Taiwanese journal of obstetrics & gynecology, 12/2012, Volume 51, Issue 4, p. 643
To present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis-van Creveld (EvC) syndrome. A... 
Amniocentesis | Abortion, Eugenic | Humans | Fetal Diseases - diagnostic imaging | Ellis-Van Creveld Syndrome - genetics | Pregnancy Trimester, First | Fetal Diseases - genetics | Pregnancy | Proteins - genetics | Nuchal Translucency Measurement | Adult | Female | Karyotype | Ellis-Van Creveld Syndrome - diagnostic imaging
Journal Article
Vestnik rentgenologii i radiologii, ISSN 0042-4676, 01/2015, Issue 1, p. 40
Journal Article
Clinical and Experimental Obstetrics and Gynecology, ISSN 0390-6663, 2013, Volume 40, Issue 1, pp. 162 - 164
Journal Article