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PQDT
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RISS
PsycINFO

전체선택

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

학술저널

issue: Clinical Epigenetics. 13(1)
Author: Schenkel, L. C.^{Aff1, Aff2}
Aref-Eshghi, E.
Rooney, K.
Kerkhof, J.
Levy, M. A.
McConkey, H.
Rogers, R. C.
Phelan, K.
Sarasua, S. M.
Jain, L.^{Aff3, Aff6}
Pauly, R.
Boccuto, L.^{Aff3, Aff6}
DuPont, B.
Cappuccio, G.^{Aff7, Aff8}
Brunetti-Pierri, N.^{Aff7, Aff8}
Schwartz, C. E.^Aff3
Sadikovic, B.^{Aff1, Aff2}
DB Label: Database : Springer Nature Journals

원문보기: OA (Springer) Open Access (BioMed Central) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Trends and characteristics associated with dietary triggers and psychological distress in patients with irritable bowel syndrome: a cross-sectional study

학술저널

issue: EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES; 2021, 25 10, p3752-p3761, 10p.
Author: Larussa, T.
Abenavoli, L.
Corea, A.
Procopio, A. C.
Giubilei, L.
Vallelunga, R.
Polimeni, N.
Suraci, E.
Marasco, R.
Imeneo, M.
Boccuto, L.
Luzza, F.
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

학술저널

issue: Journal of Medical Genetics. Jan 01, 2009 46(1):9-13
Author: Lyons, M J
Graham, J M, Jr
Neri, G
Hunter, A G W
Clark, R D
Rogers, R C
Moscarda, M
Boccuto, L
Simensen, R
Dodd, J
Robertson, S
DuPont, B R
Friez, M J
Schwartz, C E
Stevenson, R E
DB Label: Database : Journals@OVID

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

Correction to "Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant (vol 188A, Pg 2796, 2022)

학술저널

issue: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; DEC 21 2022, 1p.
Author: Paparella, R.
Caroleo, A. M.
Agolini, E.
Chillemi, G.
Miele, E.
Pedace, L.
Rinelli, M.
Pizzi, S.
Boccuto, L.
Colafati, G. S.
Lodi, M.
Cacchione, A.
Carai, A.
Digilio, M. C.
Toma, P.
Tartaglia, M.
Mastronuzzi, A.
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (Wiley-DB) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - RISS

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers

학술저널

issue: AMERICAN JOURNAL OF GASTROENTEROLOGY; AUG 2005, 100 8, p1886-p1891, 6p.
Author: Agostini, M
Tibiletti, MG
Lucci-Cordisco, E
Chiaravalli, A
Morreau, H
Furlan, D
Boccuto, L
Pucciarelli, S
Capella, C
Boiocchi, M
Viel, A
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

FUNCTIONAL CHARACTERIZATION OF A HOMOZYGOUS TRAF6 MUTATION CAUSING A NOVEL HUMAN IMMUNODEFICIENCY

학술저널

issue: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; APR 2020, 182 4, p921-p921, 1p.
Author: Lewis, A.
Kang, M. K.
Boccuto, L.
Fraser, B.
Foley, E.
Eisenstat, D. D.
Caluseriu, O.
DB Label: Database : Science Citation Index Expanded