黄尚志

黄尚志

工作机构:北京协和医学院

专业:医学遗传学
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GARS-Associated Axonal Neuropathy GARS相关的轴突神经病变 NBKID:
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome α地中海贫血X连锁智力障碍综合征 NBKID:
Alpha-Thalassemia α地中海贫血 NBKID:
Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome/雄激素不敏感综合征 NBKID:
Aniridia 无虹膜症(Aniridia) NBKID:
Ataxia with Vitamin E Deficiency Ataxia with Vitamin E Deficiency NBKID:
Ataxia-Telangiectasia 共济失调毛细血管扩张症 NBKID:
Beta-Thalassemia β地中海贫血(Beta-Thalassemia) NBKID:
Blepharophimosis, Ptosis, and Epicanthus Inversus 小眼裂眼睑下垂和内眦赘皮倒转综合征(Blephariphimosis, ptosis, and epicanthus inversus syndrome) NBKID:
Camurati-Engelmann Disease Camurati-Engelmann Disease / Camurati-Engelmann病 NBKID:
Charcot-Marie-Tooth Neuropathy Type 2E/1F Charcot-Marie-Tooth Neuropathy 2E/1F型 NBKID:
Charcot-Marie-Tooth Neuropathy Type 4 Charcot-Marie-Tooth Neuropathy 4型 NBKID:
Charcot-Marie-Tooth Neuropathy Type 4C Charcot-Marie-Tooth Neuropathy 4C型 NBKID:
Charcot-Marie-Tooth Neuropathy Type 4H Charcot-Marie-Tooth Neuropathy 4H型 NBKID:
Charcot-Marie-Tooth Neuropathy Type 4J Charcot-Marie-Tooth Neuropathy 4J型 NBKID:
Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth神经病变X1型 NBKID:
Charcot-Marie-Tooth Neuropathy X Type 5 Charcot-Marie-Tooth神经病变 X 5型 NBKID:
Coffin-Lowry Syndrome Coffin-Lowry综合征 NBKID:
GDAP1-Related Hereditary Motor and Sensory Neuropathy GDAP1相关的遗传性运动和感觉神经病(GDAP1-Related Hereditary Motor and Sensory Neuropathy) NBKID:
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency 孤立性促性腺激素释放激素(GnRH)缺陷症 NBKID:
Mucopolysaccharidosis Type IVA Mucopolysaccharidosis Type IVA NBKID:
Neurofibromatosis 1 神经纤维瘤1型 NBKID:
Neurofibromatosis 2 神经纤维瘤2型 NBKID:
Oculocutaneous Albinism Type 1 眼皮肤白化病1型 NBKID:
Oculocutaneous Albinism Type 2 眼皮肤白化病2型 NBKID:
Oculocutaneous Albinism Type 4 眼皮肤白化病4型 NBKID:
Oral-Facial-Digital Syndrome Type I Oral-Facial-Digital Syndrome Type I / 口-面-指综合征I型 NBKID:
POLR3-Related Leukodystrophy RNA 聚合酶III相关的白质营养不良(聚合酶III-相关的白质营养不良) NBKID:
PROP1-Related Combined Pituitary Hormone Deficiency PROP1相关型联合性脑垂体激素缺乏症(初稿) NBKID:
Primary Ciliary Dyskinesia Primary ciliary dyskinasia 原发性纤毛运动障碍 NBKID:
Proopiomelanocortin Deficiency 阿黑皮素原缺乏症(Proopiomelanocortin Deficiency) NBKID:
Tyrosine Hydroxylase Deficiency 酪氨酸羟化酶缺陷 NBKID:
Wilms Tumor Predisposition Wilms肿瘤易感性 NBKID:
X-Linked Adrenal Hypoplasia Congenita X-连锁先天性肾上腺发育不全 NBKID:
Y Chromosome Infertility Y染色体不育 NBKID:

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