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2017, Third edition., ISBN 9781496337177
Web Resource
2015, ISBN 3662433818
Web Resource
2014, 7th edition., ISBN 1455728748
Comprehensive, yet concise and clinically oriented, the new edition of Ocular Pathology brings you the very latest advances of every aspect of ocular... 
Eye | pathology | Eye Diseases | Wounds and injuries | Diseases
Web Resource
2015, Seventh edition., ISBN 1455728748
Web Resource
1999, ISBN 0721678092, xi, 306
Book
2013, ISBN 9781461443933
Web Resource
1993, ISBN 9780443042409, 212
Book
2011, Second edition., ISBN 9781608317882
Web Resource
1979, 3d ed. --, ISBN 9780632004690, xii, 281
Book
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
Journal Article
1992, 2nd ed. --, ISBN 9781563750090, 1 v. (various pagings)
Book
Web Resource
05/2018, Contributions to Nephrology, ISBN 3318063495, Volume 195, 11
Hereditary cystic kidney diseases are considered as “ciliopathies” caused by abnormalities of the “primary cilia” situated on the tubules. As a result of... 
Chapter | JOUBERT-SYNDROME | ARPKD | PROTEIN | GENE | MECKEL-SYNDROME | NEPHRONOPHTHISIS | UROLOGY & NEPHROLOGY | CILIOPATHY | MECHANISMS | MUTATIONS | RPGRIP1L | Abnormalities, Multiple - pathology | Leber Congenital Amaurosis - pathology | Polycystic Kidney Diseases - genetics | Optic Atrophies, Hereditary - genetics | Hyperuricemia - pathology | Humans | Polycystic Kidney, Autosomal Dominant - pathology | Anemia - pathology | Optic Atrophies, Hereditary - pathology | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Polycystic Kidney, Autosomal Recessive - pathology | Ciliopathies - genetics | Anemia - genetics | Renin - genetics | Uromodulin - deficiency | Polycystic Kidney Diseases - pathology | Polycystic Kidney, Autosomal Dominant - genetics | Bardet-Biedl Syndrome - pathology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Uromodulin - genetics | Abnormalities, Multiple - genetics | Encephalocele - genetics | Renal Insufficiency - genetics | Orofaciodigital Syndromes - genetics | Retinitis Pigmentosa - genetics | Leber Congenital Amaurosis - genetics | Eye Abnormalities - genetics | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Orofaciodigital Syndromes - pathology | Hyperuricemia - genetics | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Renal Insufficiency - pathology | Retina - abnormalities | Renin - deficiency | Retina - pathology | Retinitis Pigmentosa - pathology | Ciliary Motility Disorders - genetics | Ciliopathies - pathology
Book Chapter
2009, 6th ed., ISBN 0323042325
Web Resource
1985, 3rd ed. --, ISBN 9780721685106, 3 v.
Book
Web Resource
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