Lv22
168 积分 2022-08-10 加入
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A
1天前
已完结
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement
1天前
已完结
Die klassischen Hirnstammsyndrome Definitionen und Geschichte
30天前
已完结
Nothnagel Syndrome
1个月前
已关闭
Krabbe Disease: Genetic Aspects and Progress toward Therapy
1个月前
已完结
‘Behr syndrome’ with OPA1 compound heterozygote mutations
1个月前
已完结
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement
1个月前
已完结
Growth Retardation, Alopecia, Pseudoanodontia, and Optic Atrophy (GAPO Syndrome) With Congenital Glaucoma
1个月前
已完结
Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings
1个月前
已完结
A novel mutation at ANTXR1 in an Indian patient with growth retardation–alopecia–pseudoanodontia–optic atrophy syndrome
1个月前
已完结
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