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자료유형
- Academic Journals (18)
- Magazines (1)
주제
- comparative genomic hybridization (2)
- congenital disorders (2)
- dual molecular diagnosis (2)
주제

Count Name
- comparative genomic hybridization (2)
- congenital disorders (2)
- dual molecular diagnosis (2)
- facial analysis (2)
- facioscapulohumeral muscular dystrophy (2)
- lungs (2)
- mutations (2)
- patient perspectives (2)
- persistent fetal circulation syndrome (2)
- phenotype (2)
- plant chromosomes (2)
- pulmonary emphysema (2)
- pulmonary hypertension (2)
- pulmonary hypoplasia (2)
- survey (2)
- 16p11.2 (1)
- chromosome deletion (1)
- chromosomes, human, pair 17 (1)
- cooccurrence (1)
- cryptococcal meningitis (1)
- exome sequencing (1)
- facial images (1)
- features (1)
- gene (1)
- glycoproteins (1)
- heart defects, congenital (1)
- hypertension, pulmonary (1)
- hypoglycemia (1)
- hypopituitarism (1)
- identification (1)
- intracranial pressure monitoring (1)
- limb (1)
- maintain (1)
- microdeletion (1)
- mucopolysaccharidosis ii (1)
- mutation (1)
- panhypopituitarism (1)
- polymorphism, single nucleotide (1)
- region (1)
- segmental duplications (1)
- tbx3 (1)
- variants (1)
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간행물
- bmc medical genomics (5)
- clinical chemistry (4)
- journal of community genetics (3)
간행물

Count Name
- bmc medical genomics (5)
- clinical chemistry (4)
- journal of community genetics (3)
- child's nervous system (2)
- annals of maxillofacial surgery (1)
- european journal of human genetics (1)
- european journal of human genetics ejhg (1)
- molecular genetics and metabolism (1)
- south african medical journal suid afrikaanse tydskrif vir geneeskunde (1)
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출판사
- biomed central (4)
- oxford university press / usa (2)
- academic press inc elsevier science (1)
출판사

Count Name
- biomed central (4)
- oxford university press / usa (2)
- academic press inc elsevier science (1)
- bmc (1)
- medknow publications and media pvt. ltd (1)
- nature publishing group (1)
- oxford univ press inc (1)
- oxford university press (1)
- south african medical association (1)
- springer (1)
- springer berlin heidelberg (1)
- springer nature (1)
- springernature (1)
- springer-verlag (1)
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언어
- english (18)
수록데이터베이스
- MEDLINE (6)
- Science Citation Index Expanded (4)
- Complementary Index (3)
수록데이터베이스

Count Name
- MEDLINE (6)
- Science Citation Index Expanded (4)
- Complementary Index (3)
- Springer Nature Journals (3)
- Academic Search Complete (1)
- CINAHL Plus with Full Text (1)
- Supplemental Index (1)
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