Results 201 to 210 of about 130,920 (262)
A Technical Note on Portal Vein Reconstruction With Interposition Cadaveric Internal Iliac Vein Graft in an Infant With Biliary Atresia and Portal Vein Hypoplasia. [PDF]
Solangaarachchi KS +4 more
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Initially suspected case of prenatal VACTERL association ultimately diagnosed as Currarino syndrome via magnetic resonance imaging: a case description. [PDF]
Tian T, Jiang W, Chen H, Hu T, Luo H.
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Clinical practice guideline for aniridia. [PDF]
Research on rare and intractable diseases +2 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014
Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes.
Sabine, Rudnik-Schöneborn +2 more
openaire +2 more sources
Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes.
Sabine, Rudnik-Schöneborn +2 more
openaire +2 more sources
Journal of Craniofacial Surgery, 2009
Asymmetric velopharyngeal incompetence (VPI) has a diverse etiology, but those without any underlying cleft, hemifacial microsomia (HFM), or facial asymmetry are rarely encountered. Such cases have been reported within the last few years, with unilateral velopharyngeal hypoplasia identified to be the underlying abnormality in these patients.
Ying-Chien, Tan, Philip Kuo-Ting, Chen
openaire +2 more sources
Asymmetric velopharyngeal incompetence (VPI) has a diverse etiology, but those without any underlying cleft, hemifacial microsomia (HFM), or facial asymmetry are rarely encountered. Such cases have been reported within the last few years, with unilateral velopharyngeal hypoplasia identified to be the underlying abnormality in these patients.
Ying-Chien, Tan, Philip Kuo-Ting, Chen
openaire +2 more sources
European Respiratory Journal, 1991
Lung tissue developmental abnormalities are seldom reported. According to the classification of Schneider (1900), which was amended by Boyden (1955), they include pulmonary agenesis, aplasia and hypoplasia. Due to the early onset of symptoms, lung agenesis and aplasia are usually detected soon after birth.
C, Della Pona +5 more
openaire +2 more sources
Lung tissue developmental abnormalities are seldom reported. According to the classification of Schneider (1900), which was amended by Boyden (1955), they include pulmonary agenesis, aplasia and hypoplasia. Due to the early onset of symptoms, lung agenesis and aplasia are usually detected soon after birth.
C, Della Pona +5 more
openaire +2 more sources

