Abstract
Генетически обусловленные формы бесплодия у мужчин: основные характеристики и практические аспекты лабораторной диагностики
Highlights
Disease Retinitis Pigmentosa Dilated Cardiomyopathy 1O X-Linked Adrenoleukodystrophy Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Thoracic Aortic Aneurysms and Aortic Dissections Familial Hypertrophic Cardiomyopathy Dilated Cardiomyopathy 1AA Severe Combined Immunodeficiency Leber Congenital Amaurosis Autoimmune Polyendocrine Syndrome Long QT Syndrome, Autosomal Dominant Androgen Insensitivity Syndrome Hypophosphatasia Glycine Encephalopathy Long/Short QT Syndrome, Autosomal Dominant APC-Associated Polyposis Conditions Early-Onset Familial Alzheimer Disease Ataxia with Oculomotor Apraxia Type 2 Retinitis Pigmentosa Arylsulfatase A Deficiency Argininosuccinate Lyase Deficiency Canavan Spastic Paraplegia-3A Ataxia-Telangiectasia Darier Disease Menkes/ATP7A-Related Copper Transport Disease Wilson Disease Spinocerebellar Ataxia 1 Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 7 Dilated Cardiomyopathy 1HH Maple Syrup Urine Disease Maple Syrup Urine Disease Retinitis Pigmentosa.
Disease Juvenile Polyposis Syndrome Biotinidase Deficiency Agammaglobulinemia, X-Linked, Type 1 Retinitis Pigmentosa Brugada Syndrome Brugada Syndrome Familial Hypertrophic Cardiomyopathy Limb-Girdle Muscular Dystrophy Type 2A - Calpainopathy Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Familial Hypertrophic Cardiomyopathy Primary Ciliary Dyskinesia Primary Ciliary Dyskinesia Usher Syndrome Type 1 Leber Congenital Amaurosis Retinitis Pigmentosa Cystic Fibrosis Congenital Myasthenic Syndromes Charge Syndrome Li-Fraumeni Syndrome Choroideremia Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes Myotonia Congenita Retinitis Pigmentosa Stickler Syndrome, AD Inherited Deafness Osteogenesis Imperfecta Osteogenesis Imperfecta Stickler Syndrome, AD Ehlers-Danlos Syndrome Thoracic Aortic Aneurysms and Aortic Dissections Alport Syndrome
Disease Blepharophimosis-Ptosis-Epicanthus Inversus Facioscapulohumeral Muscular Dystrophy FRMD7-Related Infantile Nystagmus Retinitis Pigmentosa Friedreich Ataxia Pompe Disease -GSD II Galactosemia Atrial Septal Defect Gaucher Disease Glycogen Storage Disease Type VI Glycine Encephalopathy Brachydactyly Inherited Deafness, Top Genes Inherited Deafness, Top Genes Inherited Deafness, Top Genes Fabry Disease Glycine Encephalopathy Inclusion Body Myopathy 2 Mucolipidosis II Wilms Tumor, Classical Brugada Syndrome Ocular Albinism, X-Linked Leber Congenital Amaurosis Alpha-Thalassemia - Southeast Asia Sickle Cell Disease Beta-Thalassemia Brugada Syndrome Hexosaminidase A Deficiency HFE-Associated Hereditary Hemochromatosis Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (HIBCH Deficiency) Hydroxymethylbilane Synthase (HMBS) Deficiency Alopecia Universalis Congenita (ALUNC) Hunter Syndrome (MPSII) Hurler Syndrome (MPSI) Familial Dysautonomia (HSAN III) X-Linked SCIDS Leber Congenital Amaurosis Epidermolysis Bullosa Simplex Alagille Syndrome Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Long QT Syndrome, Autosomal Dominant Long QT Syndrome, Autosomal Dominant Brugada Syndrome Long QT Syndrome, Autosomal Dominant Short QT Syndrome
Summary
Disease Retinitis Pigmentosa Dilated Cardiomyopathy 1O X-Linked Adrenoleukodystrophy Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Thoracic Aortic Aneurysms and Aortic Dissections Familial Hypertrophic Cardiomyopathy Dilated Cardiomyopathy 1AA Severe Combined Immunodeficiency Leber Congenital Amaurosis Autoimmune Polyendocrine Syndrome Long QT Syndrome, Autosomal Dominant Androgen Insensitivity Syndrome Hypophosphatasia Glycine Encephalopathy Long/Short QT Syndrome, Autosomal Dominant APC-Associated Polyposis Conditions Early-Onset Familial Alzheimer Disease Ataxia with Oculomotor Apraxia Type 2 Retinitis Pigmentosa Arylsulfatase A Deficiency Argininosuccinate Lyase Deficiency Canavan Spastic Paraplegia-3A Ataxia-Telangiectasia Darier Disease Menkes/ATP7A-Related Copper Transport Disease Wilson Disease Spinocerebellar Ataxia 1 Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 7 Dilated Cardiomyopathy 1HH Maple Syrup Urine Disease Maple Syrup Urine Disease Retinitis Pigmentosa.
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