Análisis genético y correlaciones clínico-moleculares en pacientes con síndrome de sobrecrecimiento [PDF]
, 2010 Tesis doctoral inédita. Universidad Autónoma de Madrid, Facultad de Ciencias, Departamento de Biología Molecular.
Romanelli, Valeria
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Cutis marmorata telangiectatica congenita in unique association with imperforate anus and myelodysplasia [PDF]
, 2005 Nisha Khanna +2 more
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Increase in Cerebellar Volume in Cavalier King Charles Spaniels with Chiari-like Malformation and Its Role in the Development of Syringomyelia [PDF]
, 2012 Previous research in Cavalier King Charles Spaniels (CKCS) has found that Chiari-like malformation and syringomyelia (CM/SM) are associated with a volume mismatch between the caudal cranial fossa (CCF) and the brain parenchyma contained within.
Driver, C J +5 more
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Estudio de las malformaciones vasculares evaluadas a lo largo de una década en un hospital de referencia con un comité multidisciplinar [PDF]
, 2021 Introducción: las malformaciones vasculares (MV) son lesiones congénitas, benignas, consecuencia de alteraciones en la vasculogénesis sin que exista un recambio celular endotelial. A pesar de que suponen un motivo de consulta relativamente frecuente, hay
Estébanez Corrales, Andrea
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A Case of Cutis Marmorata Telangiectatica Congenita with Onychodysplasia [PDF]
, 2012 Joo-Young Moon +4 more
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The best interests of mentally incapacitated patients without a living will [PDF]
, 2008 published_or_final_versio
Hui, EC
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Proceedings of the 16th Annual Meeting of the Society for Pediatric Dermatology [PDF]
, 1992 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/75156/1/j.1525-1470.1992.tb00329.x ...
Gellis, Stephen +3 more
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Phacomatosis pigmentovascularis Type IIa – A case report [PDF]
Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by capillary vascular malformation and pigmentary nevus but with a wide variability in clinical presentation. A case of a 9-month-old patient is reported, who presented with capillary
Banait, Y, Girish, Meenakshi, Nanoti, G
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Megalensefali-kapiller malformasyon sendromu ve anestezi [PDF]
, 2015 Megalensefali-kapiller malformasyon sendromu; makrosefali, kortikal beyin malformasyonları ve polimikrogri, beyin ve vücutta asimetrik büyüme, jeneralize veya fasiyal kapiller malformasyonlar, sindaktili/polidaktili gibi dijital anomaliler ve bağ dokusu
Elife Türkan +4 more
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Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants [PDF]
Purpose: Heterozygous germline DIS3L2 pathogenic variants were recently linked to Wilms tumor (WT) predisposition. Limited data on cancer penetrance and characteristics complicate surveillance/management recommendations.
Al-Saadi, R. +24 more
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