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Chondrodystrophy and intervertebral Disc Disease
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Ciliary Dyskinesia
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Cleft Lip with Syndactyly
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Cleft Lip/Palate
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Cobalamin Malabsorption
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Collie Eye Anomaly/Choroidal Hypoplasia
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Color Dilution Alopecia
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Complement 3 (C3) deficiency
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Cone Degeneration
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Cone‐Rod Dystrophy (1, 2, 3, 4, SWD)
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Congenital Hypothyroidism with Goiter
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Congenital Keratoconjunctivities Sicca and Ichthyosiform Dermatosis
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Congenital Macrothrombocytopenia
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Congenital Myasthenic Syndrome
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Congenital Stationary Night Blindness
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Copper Toxicosis
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Craniomandibular Osteopathy
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Curly Coat Dry Eye Syndrome
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Cyclic Hematopoiesis
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Cyclic Neutropenia
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Cystic renal Dysplasia and Hepatic Fibrosis
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Cystinuria (Types I‐A, II‐A, II‐B)
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Dandy–Walker Malformation
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Day Blindess
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Deafness and Vestibular Syndrome
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Degenerative Myelopathy
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Dental Hypomineralization
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Dermatomyositis
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Dystrophic Epidermolysis Bullosa
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Early Adult Onset Deafness
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Early Onset Progressive Polyneuropathy
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Ectodermal Dysplasia
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Elliptocytosis
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Encephalopathy
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Epidermolysis Bullosa Simplex
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Epidermolytic Hyperkeratosis
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Epilepsy (variants)
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Episodic Falling Syndrome
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Exercise‐Induced Collapse
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Exercise‐Induced Metabolic Myopathy
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Factor IX Deficiency (Hemophilia B)
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Factor VII Deficiency
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Factor VIII Deficiency (Hemophilia A)
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Factor XI Deficiency
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Factor XII Deficiency
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Familial Congenital Methemoglobinemia
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Familial Juvenile Epilepsy
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Familial Nephropathy
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Fanconi Syndrome
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Fucosidosis
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Gall Bladder Mucocele Formation
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Gangliosidosis (GM1 & GM2)
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Generalized Myoclonic Epilepsy
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Glanzmann's Thrombasthenia
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Glaucoma
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Globoid Cell Leukodystrophy/Krabbe’s Disease
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Glomerulopathy KIRREL2
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Glycogen Storage Disease IA, II, III, IIIA
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Goniodysgenesis and Glaucoma
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Hereditary Ataxia
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Hereditary Cataracts
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Hereditary Deafness (PTPRQ)
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Hereditary Footpad Hyperkeratosis
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Hereditary Nasal Parakeratosis
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Hereditary Nephropathy
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Hereditary Nephropathy (Alport Syndrome)
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Hip Dysplasia (markers)
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Histiocytic Sarcoma (marker)
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Hyperekplexia (Startle Disease)
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Hyperoxaluria
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Hyperuricosuria
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Hypoadrenocorticism
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Hypocatalasia
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Hypokalemic Polymyopathy
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Hypomyelination and Tremors
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Ichthyosis
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Inflammatory Myopathy
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Inherited Myopathy
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Iron‐Deficiency Anemia
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Juvenile Encephalopathy
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Juvenile Epilepsy
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Juvenile Laryngeal Paralysis and Polyneuropathy
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Juvenile Myoclonic Epilepsy
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Juvenile Onset Polyneuropathy
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L2‐ Hydroxyglutaric Aciduria
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Lagotto Storage Disease
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Laryngeal Paralysis
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Lethal Acrodermatitis MKLN1
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Leukoencephalomyelopathy
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Ligneous Membranitis
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Lipoprotein Lipase Deficiency
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Long QT Syndrome
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Lundehund Syndrome
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Lupoid Dermatosis
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Macrothrombocytopenia
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Macular Corneal Dystrophy
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Malignant Hyperthermia
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Mannosidosis
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May–Hegglin Anomaly
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Microphthalmia, Anophthalmia, and Coloboma
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Mucolipidosis II
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Mucopolysaccharidosis (I, IIIa, VI, VII, VIII)
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Mullerian Duct Syndrome
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