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2015, Sixth edition., ISBN 1608311767, xii, 576 pages
Top experts from all over the world have been brought together by the editors, to give a world of expertise on this important subject, with a strong emphasis... 
Parkinson Disease | Movement Disorders
Book
Review Article - The Impact of Consanguinity on the Indian Population, 12/2002
Numerous studies have been conducted by Indian anthropologists into the prevalence of both consanguineous and affinal marriage.1-3 and the topic of... 
Consanguineous marriage, endogamy, drift, recessive disorders, India
Journal
Case Report - Juvenile hyaline fibromatosis in siblings, 12/2005
Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder. We report two siblings with multiple large tumors on the scalp,... 
Juvenile hyaline fibromatosis, Chondroid appearance, Autosomal recessive
Journal
2010, 1st Edition., ISBN 184996064X, 115
Movement disorders are a complex group of disorders spanning all aspects of neurological illnesses and ranging from conditions characterised by too little... 
Movement disorders | Medicine: General Issues | General Practice / Family Medicine | Neurology | Emergency Medicine | Medicine & Public Health
eBook
Journal Article
Kidney International, ISSN 0085-2538, 05/2013, Volume 83, Issue 5, pp. 855 - 864
Journal Article
2004, 2nd ed., Advanced Texts, ISBN 1859962475, 296
Molecular Biology of Cancer has been extensively revised and covers heredity cancer, microarray technology and increased study of childhood cancers. It... 
Genetic aspects | Molecular diagnosis | Molecular aspects | Cancer | Clinical & internal medicine | Molecular Biology | General Science | Cell Biology | Cancer - Molecular diagnosis
eBook
2003, Cancer drug discovery and development, ISBN 9780896039308, x, 326
Book
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 157 - 160
Background: Ocular cystinosis is a rare autosomal recessive disorder caused by one severe and one mild mutation in the CTNS gene. It is characterised by... 
cystinosin | Autosomal recessive | cystinosis
Journal Article
2000, Current topics in microbiology and immunology, ISBN 9783540666080, Volume 249., vi, 169
Book
Primary degenerative cerebellar ataxias in ethnic Bengalees in West Bengal: some observations, 12/2003
Seventy cases of primary degenerative cerebellar ataxias in ethnic Bengalees from southern West Bengal, India, were studied by the authors. Of these, 50 cases... 
Cerebellar ataxia, Autosomal recessive, Autosomal dominant, Ethnic variations
Journal
Gastroenterology, ISSN 0016-5085, 2007, Volume 132, Issue 3, pp. 1104 - 1116
Background & Aims: In polycystic liver diseases (PCLDs), increased cholangiocyte proliferation and fluid secretion are key features and cholangiocyte adenosine... 
Gastroenterology and Hepatology | KIDNEY-DISEASE | MOLECULAR CHARACTERIZATION | CYST FORMATION | CYCLIC ADENOSINE | TYROSINE KINASE INHIBITION | SOMATOSTATIN RECEPTORS | CELL-PROLIFERATION | HAN-SPRD RATS | ORTHOLOGOUS MODEL | GASTROENTEROLOGY & HEPATOLOGY | BILIARY EPITHELIUM | Cysts - etiology | Bile Ducts - metabolism | Bile Duct Diseases - etiology | Liver Diseases - pathology | Dose-Response Relationship, Drug | Polycystic Kidney, Autosomal Recessive - pathology | Cysts - metabolism | Liver - drug effects | Time Factors | Bile Duct Diseases - metabolism | Polycystic Kidney, Autosomal Recessive - complications | Liver Diseases - etiology | Liver Cirrhosis - metabolism | Polycystic Kidney, Autosomal Recessive - drug therapy | Receptors, Somatostatin - metabolism | Cyclic AMP - metabolism | Organ Culture Techniques | Disease Models, Animal | Liver Cirrhosis - etiology | Cysts - prevention & control | Kidney - drug effects | Liver Cirrhosis - prevention & control | Bile Ducts - drug effects | Liver - metabolism | Liver Diseases - prevention & control | Rats | Octreotide - therapeutic use | Cysts - pathology | Octreotide - pharmacology | Rats, Sprague-Dawley | Disease Progression | Gastrointestinal Agents - pharmacology | Animals | Bile Duct Diseases - prevention & control | Gastrointestinal Agents - therapeutic use | Receptors, Somatostatin - drug effects | Cell Proliferation - drug effects | Liver Diseases - metabolism | Polycystic Kidney, Autosomal Recessive - metabolism | Bile Duct Diseases - pathology | Adenosine | Analysis | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1289 - 1302.e4
Journal Article
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, ISSN 0275-004X, 09/2015, Volume 35, Issue 9, pp. e58 - e58
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2017, Volume 49, Issue 7, pp. 1025 - 1034
Journal Article