王萍

王萍

工作机构:华中科技大学同济医学院附属协和医院儿科

专业:儿童肿瘤与遗传
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16p11.2 Recurrent Microdeletion 16p11.2 Recurrent Microdeletion NBKID:
ATP8B1 Deficiency ATP8B1 Deficiency NBKID:
Acute Intermittent Porphyria Acute Intermittent Porphyria NBKID:
Alpha-1 Antitrypsin Deficiency Alpha-1 Antitrypsin Deficiency NBKID:
Amyotrophic Lateral Sclerosis Overview Amyotrophic Lateral Sclerosis Overview NBKID:
Arginase Deficiency 精氨酸酶缺乏症 NBKID:
Arrhythmogenic Right Ventricular Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy NBKID:
Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome NBKID:
Autosomal Dominant Leukodystrophy with Autonomic Disease Autosomal Dominant Leukodystrophy with Autonomic Disease NBKID:
Biotinidase Deficiency 生物素酶缺乏症 NBKID:
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia NBKID:
Citrullinemia Type I Citrullinemia Type I NBKID:
Classic Galactosemia and Clinical Variant Galactosemia Classic Galactosemia and Clinical Variant Galactosemia NBKID:
Congenital Dyserythropoietic Anemia Type I Congenital Dyserythropoietic Anemia Type I NBKID:
Congenital Erythropoietic Porphyria Congenital Erythropoietic Porphyria NBKID:
Congenital Myasthenic Syndromes Congenital Myasthenic Syndromes NBKID:
DFNA2 Nonsyndromic Hearing Loss DFNA2 Nonsyndromic Hearing Loss NBKID:
DFNX1 Nonsyndromic Hearing Loss and Deafness DFNX1 Nonsyndromic Hearing Loss and Deafness NBKID:
DYT1 Early-Onset Isolated Dystonia DYT1 Early-Onset Isolated Dystonia NBKID:
Deafness-Dystonia-Optic Neuronopathy Syndrome Deafness-Dystonia-Optic Neuronopathy Syndrome NBKID:
Diamond-Blackfan Anemia Diamond-Blackfan Anemia NBKID:
Duarte Variant Galactosemia Duarte Variant Galactosemia NBKID:
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease NBKID:
Dystrophic Epidermolysis Bullosa Dystrophic Epidermolysis Bullosa NBKID:
EXOSC3-Related Pontocerebellar Hypoplasia EXOSC3-Related Pontocerebellar Hypoplasia NBKID:
EZH2-Related Overgrowth EZH2-Related Overgrowth NBKID:
Enlarged Parietal Foramina Enlarged Parietal Foramina NBKID:
Epidermolysis Bullosa Simplex Epidermolysis Bullosa Simplex NBKID:
Epidermolysis Bullosa with Pyloric Atresia Epidermolysis Bullosa with Pyloric Atresia NBKID:
Epimerase Deficiency Galactosemia Epimerase Deficiency Galactosemia NBKID:
Episodic Ataxia Type 1 Episodic Ataxia Type 1 NBKID:
Erythropoietic Protoporphyria, Autosomal Recessive Erythropoietic Protoporphyria, Autosomal Recessive NBKID:
Esophageal Atresia/Tracheoesophageal Fistula Overview Esophageal Atresia/Tracheoesophageal Fistula Overview NBKID:
FBLN5-Related Cutis Laxa FBLN5-Related Cutis Laxa NBKID:
FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome NBKID:
Factor V Leiden Thrombophilia Factor V Leiden Thrombophilia NBKID:
Familial Mediterranean Fever Familial Mediterranean Fever NBKID:
Familial Porphyria Cutanea Tarda Familial Porphyria Cutanea Tarda NBKID:
Hereditary Transthyretin Amyloidosis Hereditary Transthyretin Amyloidosis NBKID:
Fanconi Anemia Fanconi Anemia NBKID:
Fukuyama Congenital Muscular Dystrophy Fukuyama Congenital Muscular Dystrophy NBKID:
GATA1-Related X-Linked Cytopenia GATA1-Related X-Linked Cytopenia NBKID:
Gaucher Disease Gaucher Disease NBKID:
Genetic Atypical Hemolytic-Uremic Syndrome Genetic Atypical Hemolytic-Uremic Syndrome NBKID:
Hemophagocytic Lymphohistiocytosis, Familial Hemophagocytic Lymphohistiocytosis, Familial NBKID:
Hepatic Veno-Occlusive Disease with Immunodeficiency Hepatic Veno-Occlusive Disease with Immunodeficiency NBKID:
Hepatoerythropoietic Porphyria Hepatoerythropoietic Porphyria NBKID:
Hereditary Dystonia Overview Hereditary Dystonia Overview NBKID:
Hereditary Fructose Intolerance Hereditary Fructose Intolerance NBKID:
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency NBKID:
Huntington Disease Huntington Disease NBKID:
Hypophosphatasia Hypophosphatasia NBKID:
IPEX Syndrome IPEX Syndrome NBKID:
Infantile-Onset Spinocerebellar Ataxia Infantile-Onset Spinocerebellar Ataxia NBKID:
Isolated Methylmalonic Acidemia Isolated Methylmalonic Acidemia NBKID:
Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa NBKID:
LAMA2-Related Muscular Dystrophy LAMA2-Related Muscular Dystrophy NBKID:
Lymphoproliferative Disease, X-Linked Lymphoproliferative Disease, X-Linked NBKID:
Lysinuric Protein Intolerance Lysinuric Protein Intolerance NBKID:
Lysosomal Acid Lipase Deficiency Lysosomal Acid Lipase Deficiency NBKID:
MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome NBKID:
Mitochondrial DNA Deletion Syndromes Mitochondrial DNA Deletion Syndromes NBKID:
Niemann-Pick Disease Type C Niemann-Pick Disease Type C NBKID:
Nonsyndromic Hearing Loss and Deafness, DFNA3 Nonsyndromic Hearing Loss and Deafness, DFNA3 NBKID:
Nonsyndromic Hearing Loss and Deafness, Mitochondrial Nonsyndromic Hearing Loss and Deafness, Mitochondrial NBKID:
Noonan Syndrome Noonan Syndrome NBKID:
Noonan Syndrome with Multiple Lentigines Noonan Syndrome with Multiple Lentigines NBKID:
Oculopharyngeal Muscular Dystrophy Oculopharyngeal Muscular Dystrophy NBKID:
PIK3CA-Related Segmental Overgrowth PIK3CA Related Segmental Overgrowth NBKID:
PLA2G6-Associated Neurodegeneration PLA2G6-Associated Neurodegeneration NBKID:
PNPLA6-Related Disorders PNPLA6-Related Disorders NBKID:
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia NBKID:
Pachyonychia Congenita Pachyonychia Congenita NBKID:
Pantothenate Kinase-Associated Neurodegeneration Pantothenate Kinase-Associated Neurodegeneration NBKID:
Primary Familial and Congenital Polycythemia Primary Familial and Congenital Polycythemia NBKID:
Propionic Acidemia Propionic Acidemia NBKID:
Pulmonary Fibrosis, Familial Pulmonary Fibrosis, Familial NBKID:
Russell-Silver Syndrome Russell-Silver Syndrome NBKID:
Short-Chain Acyl-CoA Dehydrogenase Deficiency Short-Chain Acyl-CoA Dehydrogenase Deficiency NBKID:
Shwachman-Diamond Syndrome Shwachman-Diamond Syndrome NBKID:
Sitosterolemia Sitosterolemia NBKID:
Spinal Muscular Atrophy, X-Linked Infantile Spinal Muscular Atrophy, X-Linked Infantile NBKID:
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive NBKID:
Systemic Primary Carnitine Deficiency Systemic Primary Carnitine Deficiency NBKID:
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form NBKID:
Tuberous Sclerosis Complex Tuberous Sclerosis Complex NBKID:
Poikiloderma with Neutropenia Poikiloderma with Neutropenia NBKID:
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria NBKID:
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria NBKID:
Variegate Porphyria Variegate Porphyria NBKID:
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency NBKID:
X-Linked Adrenoleukodystrophy X-Linked Adrenoleukodystrophy NBKID:
X-Linked Agammaglobulinemia X-Linked Agammaglobulinemia NBKID:
X-Linked Protoporphyria X-Linked Protoporphyria NBKID:
ZAP70-Related Combined Immunodeficiency ZAP70-Related Combined Immunodeficiency NBKID:
Rhabdoid Tumor Predisposition Syndrome Rhabdoid Tumor Predisposition Syndrome NBKID:
Aymé-Gripp Syndrome Aymé-Gripp Syndrome NBKID:
BCL11A-Related Intellectual Disability BCL11A-Related Intellectual Disability NBKID:
Huppke-Brendel Syndrome Huppke-Brendel Syndrome NBKID:
Hyperphosphatemic Familial Tumoral Calcinosis Hyperphosphatemic Familial Tumoral Calcinosis NBKID:
Mucopolysaccharidosis Type III Mucopolysaccharidosis Type III NBKID:
SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures NBKID:
STAC3 Disorder STAC3 Disorder NBKID:
Saul-Wilson Syndrome Saul-Wilson Syndrome NBKID:
ETV6 Thrombocytopenia and Predisposition to Leukemia ETV6 Thrombocytopenia and Predisposition to Leukemia NBKID:
RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies NBKID:

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