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Archives of Ophthalmology, ISSN 0003-9950, 12/1992, Volume 110, Issue 12, pp. 1739 - 1742
• We reviewed the clinical findings in 29 patients with Peters' anomaly. There was developmental delay in 15 patients, congenital heart disease in eight... 
OPHTHALMOLOGY | PLUS | Humans | Abnormalities, Multiple - classification | Eye Abnormalities - complications | Index Medicus | Abridged Index Medicus
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 7/2003, Volume 70, Issue 7, pp. 549 - 552
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The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1181 - 1189
Journal Article
by Gattoussi, Sarra and Buitendijk, Gabriëlle H.S and Peto, Tunde and Leung, Irene and Schmitz‐Valckenberg, Steffen and Oishi, Akio and Wolf, Sebastian and Deák, Gábor and Delcourt, Cécile and Klaver, Caroline C.W and Korobelnik, Jean‐François and Acar, Niyazi and Anastosopoulos, Eleftherios and Azuara‐Blanco, Augusto and Berendschot, Tos and Bergen, Arthur and Bertelsen, Geir and Binquet, Christine and Bird, Alan and Bobak, Martin and Bøgelund Larsen, Morten and Boon, Camiel and Bourne, Rupert and Brétillon, Lionel and Broe, Rebecca and Bron, Alain and Cachulo, Maria Luz and Capuano, Vittorio and Carrière, Isabelle and Chakravarthy, Usha and Chan, Michelle and Chang, Petrus and Colijn, Johanna and Cougnard‐Grégoire, Audrey and Cree, Angela and Creuzot‐Garcher, Catherine and Cumberland, Phillippa and Cunha‐Vaz, José and Daien, Vincent and De Jong, Eiko and Deak, Gabor and Delyfer, Marie‐Noëlle and Hollander, Anneke and Dietzel, Martha and Erke, Maja Gran and Faria, Pedro and Farinha, Claudia and Fauser, Sascha and Finger, Robert and Fletcher, Astrid and Foster, Paul and Founti, Panayiota and Gorgels, Theo and Grauslund, Jakob and Grus, Franz and Hammond, Christopher and Helmer, Catherine and Hense, Hans‐Werner and Hermann, Manuel and Hoehn, René and Hogg, Ruth and Holz, Frank and Hoyng, Carel and Jansonius, Nomdo and Janssen, Sarah and Kersten, Eveline and Khawaja, Anthony and Lamparter, Julia and Le Goff, Mélanie and Lechanteur, Yara and Lehtimäki, Terho and Mauschitz, Matthias and Meester, Magda and Merle, Bénédicte and Meyer zu Westrup, Verena and Midena, Edoardo and Miotto, Stefania and Mirshahi, Alireza and Mohan‐Saïd, Sadek and Mueller, Michael and Muldrew, Alyson and Murta, Joaquim and Nickels, Stefan and Nunes, Sandrina and Owen, Christopher and Pfeiffer, Norbert and Piermarocchi, Stefano and Prokofyeva, Elena and Rahi, Jugnoo and Raitakari, Olli and Rauscher, Franziska and Ribeiro, Luisa and Rougier, Marie‐Bénédicte and Rudnicka, Alicja and Sahel, José and Salonikiou, Aggeliki and Sanchez, Clarisa and Schuster, Alexander and Schweitzer, Cédric and Segato, Tatiana and ... and European Eye Epidemiology E3 Conso and European Eye Epidemiology (E3) consortium and the European Eye Epidemiology (E3) consortium
Acta Ophthalmologica, ISSN 1755-375X, 06/2019, Volume 97, Issue 4, pp. 364 - 371
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Journal Article
OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY, ISSN 0740-9303, 11/2013, Volume 29, Issue 6, pp. 506 - 506
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The Journal of clinical pediatric dentistry, ISSN 1053-4628, 01/2017, Volume 41, Issue 1, pp. 66 - 69
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Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 10/2014, Volume 44, Issue 4, pp. 447 - 454
Objective To define imaging patterns of unilateral cerebellar hypoplasia (UCH), discuss possible pathophysiological mechanisms and underline the etiology and... 
PHACE | syndrome | cerebellum | posterior fossa | ultrasound | clastic lesion | Cerebellum | Clastic lesion | PHACE syndrome | Posterior fossa | Ultrasound | HEMORRHAGE | ABNORMALITIES | CLASSIFICATION | CYTOMEGALOVIRUS-INFECTION | FEATURES | OBSTETRICS & GYNECOLOGY | ACOUSTICS | POSTERIOR-FOSSA | MALFORMATIONS | GROWTH | SPECTRUM | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Aortic Coarctation - diagnostic imaging | Eye Abnormalities - diagnostic imaging | Prognosis | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Infant | Male | Nervous System Malformations - diagnostic imaging | Cerebellum - abnormalities | Developmental Disabilities - diagnostic imaging | Cerebellum - diagnostic imaging | Nervous System Malformations - physiopathology | Female | Ultrasonography, Prenatal - methods | Retrospective Studies | Developmental Disabilities - diagnosis | Cranial Fossa, Posterior - diagnostic imaging | Developmental Disabilities - physiopathology | Fetal Diseases - diagnosis | Cerebellum - physiopathology | Fetal Diseases - diagnostic imaging | Gestational Age | Pregnancy | Fetal Diseases - physiopathology | Cranial Fossa, Posterior - abnormalities | Nervous System Malformations - diagnosis | Prenatal Diagnosis - methods | Cytomegalovirus infections | Development and progression | Eye diseases | Pregnant women | Health aspects | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2015, Volume 96, Issue 6, pp. 971 - 978
Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in cellular and tissue homeostasis including growth factor function,... 
PROTEOGLYCANS | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME | INITIATION | BIOSYNTHESIS | DISEASE | GENETICS & HEREDITY | DISORDERS | HEPARAN-SULFATE | B3GALT6 | SPECTRUM | XYLOSYLTRANSFERASE-II | Immunohistochemistry | Osteochondrodysplasias - pathology | Retinal Detachment - pathology | Humans | Cataract - pathology | Molecular Sequence Data | Male | Retinal Detachment - drug therapy | Hearing Disorders - genetics | Osteochondrodysplasias - drug therapy | Osteochondrodysplasias - genetics | Base Sequence | Osteoporosis - diagnostic imaging | Diphosphonates - therapeutic use | Craniofacial Abnormalities - pathology | Osteoporosis - genetics | Pentosyltransferases - blood | Real-Time Polymerase Chain Reaction | Craniofacial Abnormalities - genetics | Frameshift Mutation - genetics | Pentosyltransferases - genetics | Eye Diseases, Hereditary - pathology | Craniofacial Abnormalities - drug therapy | Retinal Detachment - genetics | Sequence Analysis, DNA | Eye Diseases, Hereditary - drug therapy | Eye Diseases, Hereditary - genetics | Radiography | Homozygote | Exome - genetics | Pedigree | Hearing Disorders - pathology | Cataract - genetics | Cataract - drug therapy | Genetic disorders | Proteoglycans | Gene mutations | Physiological aspects | Nucleotide sequencing | Identification and classification | Health aspects | Methods | DNA sequencing | Homeostasis | Genotype & phenotype | Genetics | Mutation | RNA-protein interactions | Index Medicus | Report
Journal Article