ライフサイエンスコーパス: familial dysautonomia

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1 onin is responsible for the milder course in familial dysautonomia.

2 Here, we assess CG-2 as a candidate for familial dysautonomia.

3 est subunit of human Elongator (Elp1) causes familial dysautonomia, a severe recessive neuropathy.

4 as autism spectrum disorders, schizophrenia, familial dysautonomia, and Alzheimer's disease.

5 Other syndromes such as Klippel-Feil, familial dysautonomia, and Marfan syndrome demonstrate h

6 neuropathy with clinical features similar to familial dysautonomia as well as contractures, we identi

7 nscript CG-2 (C9ORF5), was isolated from the familial dysautonomia candidate region on 9q31 using a c

8 ction and direct genomic sequencing from the familial dysautonomia candidate region on 9q31.

9 defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-

10 The autosomal recessive disorder familial dysautonomia (FD) has recently been demonstrate

11 Familial dysautonomia (FD) is a debilitating disorder th

12 Familial dysautonomia (FD) is a devastating developmenta

13 Familial dysautonomia (FD) is a rare but fatal periphera

14 Familial dysautonomia (FD) is a severe hereditary sensor

15 Familial dysautonomia (FD) is a severe neurodegenerative

16 Familial dysautonomia (FD) is an autosomal recessive neu

17 Familial dysautonomia (FD) is caused by mutations in IKB

18 Familial dysautonomia (FD) is characterized by severe an

19 Familial dysautonomia (FD) is the best-known and most co

20 ch was used to generate and purify iNCs from familial dysautonomia (FD) patient fibroblasts.

21 Familial dysautonomia (FD), a devastating hereditary sen

22 Cs that were generated from individuals with familial dysautonomia (FD), a rare, fatal genetic disord

23 protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and auto

24 Familial dysautonomia (FD), also known as HSAN type III,

25 ontribute to the high morbidity/mortality of familial dysautonomia (FD), the mechanisms remain unclea

26 s in human Elp1p (IKAP) are a known cause of familial dysautonomia (FD).

27 with temperature and sweating dysfunction in familial dysautonomia (FD).

28 Familial dysautonomia (FD; also known as "Riley-Day synd

29 ensory and autonomic neuropathy type III, or familial dysautonomia [FD; Online Mendelian Inheritance

30 Using fibroblasts from patients with familial dysautonomia (hereditary sensory and autonomic

31 n is significantly more abundant in cells of familial dysautonomia patients with IKBKAP (I-kappa-B ki

32 expression were detected for either gene in familial dysautonomia patients.

33 of diseases like spinal muscular atrophy and familial dysautonomia that allowed partial modeling of t

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