ライフサイエンスコーパス: multiple congenital anomaly

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します

1 novo variant in FGFR1 in an individual with multiple congenital anomalies.

2 large, rare CNVs within patients exhibiting multiple congenital anomalies.

3 DiGeorge syndrome, which is associated with multiple congenital anomalies.

4 of segmental aneusomy among 11 children with multiple congenital anomalies.

5 p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and

6 enis syndrome (SMS), a genomic disorder with multiple congenital anomalies associated with a 3.7 Mb h

7 rder characterized by mental retardation and multiple congenital anomalies associated with del(17)(p1

8 This report describes an infant with multiple congenital anomalies born to a 20-year-old moth

9 It is mutated in CHARGE syndrome, a multiple congenital anomaly condition.

10 balanced and unbalanced, in individuals with multiple congenital anomalies continue to be a valuable

11 ow tract (RVOT), "small pulmonary arteries," multiple congenital anomalies, critical illnesses (CI),

12 CHARGE is a multiple congenital anomaly disorder and a common cause

13 terygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders characterized by w

14 erygium syndromes (MPSs) comprise a group of multiple-congenital-anomaly disorders characterized by w

15 n to be responsible for a condition known as multiple congenital anomalies-hypotonia-seizures syndrom

16 cts in ciliogenesis or cilial function cause multiple congenital anomalies in vertebrates.

17 -linked, recessive disorder characterized by multiple congenital anomalies including craniofacial abn

18 inding protein 7, in CHARGE syndrome lead to multiple congenital anomalies, including craniofacial ma

19 X-linked intellectual disability (XLID) and multiple congenital anomalies, including craniofacial, m

20 They exhibited multiple congenital anomalies, including heart defects,

21 syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental

22 A male child with multiple congenital anomalies initially was clinically d

23 (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).

24 ogic abnormalities typically associated with multiple congenital anomalies (MCA).

25 Smith-Magenis syndrome (SMS) is a multiple congenital anomalies, mental retardation syndro

26 A multiple congenital anomaly-mental retardation syndrome

27 syndrome (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrom

28 Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome

29 Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome

30 rs were neonatal encephalopathy (n = 17) and multiple congenital anomalies (n = 14).

31 er characterized by intellectual disability, multiple congenital anomalies, obesity, neurobehavioral

32 osomal instability disorder characterized by multiple congenital anomalies, progressive bone marrow f

33 Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by di

34 ulate the major features of the SMG9-related multiple congenital anomaly syndrome we observed in huma

35 CFNS represents the first multiple congenital anomaly syndrome with this unusual p

36 forms, where they occur as one component of multiple congenital anomaly syndromes, have Mendelian or

37 ufficency of histone-modification enzymes in multiple-congenital-anomaly syndromes, and further illus

38 is a syndrome of intellectual disability and multiple congenital anomalies that features generalized

39 tone acetylation and deacetylation result in multiple congenital anomalies with most individuals disp

WebLSDに未収録の専門用語（用法）は "新規対訳" から投稿できます。