UZH - Institut für Medizinische Molekulargenetik - Optic Nerve Hypo...
... Nerve Hypoplasia The hypoplastic optic nerve is characterized by a smaller size in comparison to the ... information Congenital visual impairment can be caused by optic nerve hypoplasia (ONH; OMIM #165550), a non ... UZH - Institut für Medizinische Molekulargenetik - Optic Nerve Hypoplasia ... UZH - Institut für Medizinische Molekulargenetik - Optic Nerve Hypoplasia Home Hauptnavigation ... UZH - Institut für Medizinische Molekulargenetik - Optic Nerve Hypoplasia ...
The molecular basis of the cartilage-hair hypoplasia–anauxetic dysp...
... Thiel, C T ; Rauch, A (2011). The molecular basis of the cartilage-hair hypoplasia–anauxetic ... Abstract Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias ... The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum - Zurich Open ... The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum - Zurich Open ... The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum - Zurich Open ...
Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant ...
... Optic nerve hypoplasia (ONH) is a congenital optic nerve abnormality caused by underdevelopment of ... ONH, with additional features of foveal hypoplasia and distinct vascular abnormalities, where whole ... Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia ... Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia ... Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia ...
Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1 ...
... Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1 - Zurich Open Repository and ... Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1 - Zurich Open Repository and ... Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1 - Zurich Open Repository and ...
Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with ...
... Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS ... ) syndrome: no evidence of genetic overlap Copy Abstract Focal dermal hypoplasia (FDH) is an X-linked ... Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS ... Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS ... Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS ...
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defe...
... condition, comprising anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac malformations ... condition, comprising anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac malformations ... Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 ... Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 ... Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 ...
MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar...
... , intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia ... , intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia ... MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia - Zurich Open ... MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia - Zurich Open ... MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia - Zurich Open ...
Slide A IV 21
... the patient ( hypoplasia). - Distinct fibrosis ( Fibrose ) of the thymus. The parenchyma is scant and ... ). - The thymus is small for the age of the patient ( hypoplasia). - Distinct fibrosis ( Fibrose ) of the ...
Effects of deletion and duplication in a patient with a 46,XX,der(7...
... , hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, various minor facial ... hypoplasia by one or more genes located on the proximal half of the segmental 17p duplication could be ... female with severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum ... , unilateral sacral hypoplasia, tethered cord, various minor facial dysmorphisms, and a telomeric deletion of ...
Maxillary distraction resulting in facial advancement at Le Fort II...
... advancement at the Le Fort III level after surgical correction of their maxillary hypoplasia. The Le Fort I ... osteotomy, originally performed for their maxillary dentoalveolar hypoplasia, was an incomplete osteotomy ... surgical correction of their maxillary hypoplasia. The Le Fort I osteotomy, originally performed for their ... maxillary dentoalveolar hypoplasia, was an incomplete osteotomy. It was performed without down-fracture ...
