Agammaglobulinaemia and Achondroplasia [PDF]
, 1967 Vincent A. Fulginiti +3 more
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Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients [PDF]
, 2009 Background: Achondroplasia is the most common form of non lethal skeletal dysplasia. It is a fully penetrant autosomal dominant disorder and the majority of cases are sporadic resulting from de novo mutations associated with advanced paternal age.
Abdel-Aleem, AK +6 more
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Megalencephaly due to impaired cerebral venous return in a Sturge-Weber variant syndrome. [PDF]
, 1986 An infant with a Sturge-Weber variant syndrome developed progressive megalencephaly and eventual hydrocephalus, which required shunting. Cerebral angiography revealed absence of the deep cerebral venous system and the development of abnormal drainage ...
Baram, TZ, Fishman, MA
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ACHONDROPLASIA AND OBSTRUCTIVE SLEEP APNEA: CORRECTION OF APNEA AND SLEEP ENTRAINED GROWTH HORMONE RELEASE BY TRACHEOSTOMY [PDF]
, 1984 S. Goldstein +6 more
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ACHONDROPLASIA DUE TO DNA INSERTION INTO THE TYPE II COLLAGEN GENE [PDF]
, 1984 Charles M. Strom
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Biothérapie pour l'achondroplasie [PDF]
, 2014 L'achondroplasie est une maladie génétique rare caractérisée par un développement osseux anormal et une obésité précoce. Cette pathologie est due à une mutation dans le gène codant le FGFR3 conduisant à son activation prolongée dans le cartilage de ...
Garcia, Stéphanie
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Development Of Food Guide Pyramid For Individuals With Achondroplasia [PDF]
, 2012 AN ABSTRACT OF THE THESIS OF KATHRYN E. LAMB, for the Master of Science degree in Food and Nutrition, presented on Tuesday, November 22, 2011, at Southern Illinois University Carbondale TITLE: DEVELOPMENT OF FOOD GUIDE PYRAMID FOR INDIVIDUALS WITH ...
Lamb, Kathryn Elizabeth
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FIRST YEAR RESPONSE OF GROWTH IN SHORT CHILDREN WITH ACHONDROPLASIA OR HYPOCHONDROPLASIA TREATED WITH GROWTH HORMONE (GO) [PDF]
, 1993 Lars Hagenäs +7 more
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Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis [PDF]
, 1999 Lin Chen +7 more
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