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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده: 4 مورد
نسخه الکترونیک
medimedia.ir
Polymerase chain reaction (PCR)
Tools for genetics and genomics: Cytogenetics and molecular genetics
Achondroplasia
Osteogenesis imperfecta: An overview
Skeletal dysplasias: Approach to evaluation
Skeletal dysplasias: Specific disorders
Craniosynostosis syndromes
Microcephaly: A clinical genetics approach
Overview of craniofacial clefts and holoprosencephaly
Overview of craniosynostosis
Syndromes with craniofacial abnormalities
Beckwith-Wiedemann syndrome
Clinical manifestations and diagnosis of Turner syndrome
Congenital cytogenetic abnormalities
Down syndrome: Clinical features and diagnosis
Down syndrome: Management
Genomic disorders: An overview
Microdeletion syndromes (chromosomes 1 to 11)
Microdeletion syndromes (chromosomes 12 to 22)
Microduplication syndromes
Noonan syndrome
Sex chromosome abnormalities
The genodermatoses: An overview
Congenital anomalies: Approach to evaluation
Congenital anomalies: Causes
Congenital anomalies: Epidemiology, types, and patterns
Newborn screening for inborn errors of metabolism
Glucose-6-phosphatase deficiency (glycogen storage disease I, von Gierke disease)
Glycogen branching enzyme deficiency (glycogen storage disease IV, Andersen disease)
Glycogen debrancher deficiency (glycogen storage disease III)
Lactate dehydrogenase deficiency
Liver glycogen synthase deficiency (glycogen storage disease 0)
Liver phosphorylase deficiency (glycogen storage disease VI, Hers disease)
Lysosomal acid alpha-glucosidase deficiency (Pompe disease, glycogen storage disease II, acid maltase deficiency)
Lysosome-associated membrane protein 2 deficiency (glycogen storage disease IIb, Danon disease)
Myophosphorylase deficiency (glycogen storage disease V, McArdle disease)
Other disorders of glycogen metabolism: GLUT2 deficiency and aldolase A deficiency
Overview of congenital disorders of glycosylation
Overview of inherited disorders of glucose and glycogen metabolism
Phosphofructokinase deficiency (glycogen storage disease VII, Tarui disease)
Phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
Phosphorylase b kinase deficiency
Specific congenital disorders of glycosylation
Approach to the metabolic myopathies
Congenital disorders of creatine synthesis and transport
Disorders of tyrosine metabolism
Galactosemia: Clinical features and diagnosis
Galactosemia: Management and complications
Gaucher disease: Initial assessment, monitoring, and prognosis
Gaucher disease: Pathogenesis, clinical manifestations, and diagnosis
Gaucher disease: Treatment
Inborn errors of metabolism: Classification
Inborn errors of metabolism: Epidemiology, pathogenesis, and clinical features
Inborn errors of metabolism: Identifying the specific disorder
Metabolic emergencies in suspected inborn errors of metabolism: Presentation, evaluation, and management
Metabolic myopathies caused by disorders of lipid and purine metabolism
Methylmalonic acidemia
Mucopolysaccharidoses: Clinical features and diagnosis
Mucopolysaccharidoses: Complications
Mucopolysaccharidoses: Treatment
Newborn screening for inborn errors of metabolism
Organic acidemias: An overview and specific defects
Overview of fatty acid oxidation disorders
Overview of maple syrup urine disease
Overview of phenylketonuria
Specific fatty acid oxidation disorders
Urea cycle disorders: Clinical features and diagnosis
Urea cycle disorders: Management
Wilson disease: Clinical manifestations, diagnosis, and natural history
Wilson disease: Epidemiology and pathogenesis
Wilson disease: Treatment and prognosis
Ataxia-telangiectasia
Autosomal dominant spinocerebellar ataxias
Charcot-Marie-Tooth disease: Genetics, clinical features, and diagnosis
Charcot-Marie-Tooth disease: Management and prognosis
Clinical features, diagnosis, and management of von Hippel-Lindau disease
Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Fabry disease: Neurologic manifestations
Fragile X syndrome: Clinical features and diagnosis in children and adolescents
Fragile X syndrome: Management in children and adolescents
Friedreich ataxia
Hereditary hemorrhagic telangiectasia (HHT): Evaluation and therapy for specific vascular lesions
Hereditary hemorrhagic telangiectasia (HHT): Routine care including screening for asymptomatic AVMs
Hereditary sensory and autonomic neuropathies
Huntington disease: Genetics and pathogenesis
Intellectual disability (ID) in children: Clinical features, evaluation, and diagnosis
Intellectual disability (ID) in children: Management, outcomes, and prevention
Intellectual disability in children: Evaluation for a cause
Krabbe disease
Metachromatic leukodystrophy
Molecular biology and pathogenesis of von Hippel-Lindau disease
Neurofibromatosis type 1 (NF1): Management and prognosis
Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis
Neuronal ceroid lipofuscinosis
Neuropathies associated with hereditary disorders
Overview of Niemann-Pick disease
Overview of hereditary neuropathies
Overview of the hereditary ataxias
Rett syndrome: Genetics, clinical features, and diagnosis
Rett syndrome: Treatment and prognosis
Tuberous sclerosis complex: Genetics, clinical features, and diagnosis
Tuberous sclerosis complex: Management and prognosis
Autosomal dominant polycystic kidney disease (ADPKD) in children
Autosomal dominant tubulointerstitial kidney disease
Autosomal recessive polycystic kidney disease in children
Clinical features, diagnosis, and management of von Hippel-Lindau disease
Congenital nephrotic syndrome
Cystinosis
Genetics and pathogenesis of nephronophthisis
Nail-patella syndrome
Primary hyperoxaluria
Williams syndrome

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