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

1 CRISPR-Cas9 gene-edited mouse model revealed multiple congenital anomalies.

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

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

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

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

6 ith PTVesc mutations in LDB1 all had NDD and multiple congenital anomalies.

7 Thus, the multiple congenital anomalies and developmental delay of

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

9 The genetic causes of multiple congenital anomalies are incompletely understoo

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

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

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

13 straint scores, we identify 10 patients with multiple congenital anomalies caused by hemizygous varia

14 CHARGE syndrome, a rare multiple congenital anomaly condition, is caused by hapl

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

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

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

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

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

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

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

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

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

24 d a phenotype including developmental delay, multiple congenital anomalies (including cardiovascular

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

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

27 They exhibited multiple congenital anomalies, including heart defects,

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

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

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

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

32 cardiovascular system (CVS), facial, renal, multiple congenital anomalies (MCAs) using univariate an

33 es with bi-allelic MED16 variants who have a multiple congenital anomalies (MCAs)-intellectual disabi

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

35 A multiple congenital anomaly-mental retardation syndrome

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

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

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

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

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

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

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

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

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

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

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

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

48 S) is a multisystem disorder associated with multiple congenital anomalies, variable medical features

49 isplaying neurodevelopmental differences and multiple congenital anomalies while bearing a series of

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