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1 . Academic Journal
A homozygous missense variant in PTPN2 with early-onset Crohn's disease, growth failure and dysmorphic features in an infant: a case report.
저자
by
AWWAD, JOHNNY
;
SOUAID, MIRNA
;
YAMMINE, TONY
;
CHEBLY, ALAIN
;
SALEM, NABIHA
, et al.
소스
Journal of Genetics
. Dec2023, Vol. 102 Issue 2, p1-5. 5p.
Web of Science
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7 . Academic Journal
Novel SCN9A variant associated with congenital insensitivity to pain.
저자
by
Yammine, Tony
;
Aprahamian, Raffi
;
Souaid, Mirna
;
Salem, Nabiha
;
Awwad, Johnny
, et al.
소스
Molecular Biology Reports; Jul2023, Vol. 50 Issue 7, p6293-6298, 6p
Web of Science
Scopus
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7 . Academic Journal
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features.
저자
by
Awwad, Johnny
;
Yammine, Tony
;
Hamdar, Layal
;
Souaid, Mirna
;
Farra, Chantal
.
소스
Clinical Dysmorphology; Apr2023, Vol. 32 Issue 2, p80-83, 4p
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7 . Academic Journal
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
저자
by
Daou, Melissa
;
Souaid, Mirna
;
Yammine, Tony
;
Khneisser, Issam
;
Mansour, Hicham
, et al.
소스
Molecular Genetics & Genomic Medicine
. Feb2023, Vol. 11 Issue 2, p1-7. 7p.
Open Access (Wiley)
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7 . Periodical
Novel intronic JAG1variant associated with Alagille syndrome in a three-generation Lebanese family with variable features
저자
by
Awwad, Johnny
;
Yammine, Tony
;
Hamdar, Layal
;
Souaid, Mirna
;
Farra, Chantal
.
소스
Clinical Dysmorphology; April 2023, Vol. 32 Issue: 2 p80-83, 4p
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7 . Academic Journal
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
저자
by
Dafsari, Hormos Salimi
;
Pemberton, Joshua G.
;
Ferrer, Elizabeth A.
;
Yammine, Tony
;
Farra, Chantal
, et al.
소스
Annals of Clinical & Translational Neurology
. Sep2022, Vol. 9 Issue 9, p1345-1358. 14p.
Open Access (Wiley)
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7 .
Pediatric M5 acute myeloid leukemia with MLL-SEPT6 fusion and a favorable outcome
저자
by
Chebly, Alain
;
Djambas Khayat, Claudia
;
Yammine, Tony
;
Korban, Rima
;
Semaan, Warde
, et al.
소스
In
Leukemia Research Reports
2021 16
Full Text (Clinical Key)
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7 . Academic Journal
CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.
저자
by
Farra, Chantal
;
Awwad, Johnny
;
Hamadeh, Lama
;
Khoueiry, Pierre
;
Halawi, Zeina
, et al.
소스
Annals of Human Genetics
. Mar2022, Vol. 86 Issue 2, p80-86. 7p.
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7 .
A rare case of acute myeloid leukemia with t(12;19)(q13;q13)
저자
by
Chebly, Alain
;
Haddad, Fady Gh
;
Bassil, Josiane
;
Yammine, Tony
;
Korban, Rima
, et al.
소스
In
Leukemia Research Reports
2020 14
Full Text (Clinical Key)
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Full Text (ScienceDirect O/A)
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7 . Academic Journal
Chromosomal instability in cancers of unknown primary.
저자
by
Chebly, Alain
;
Yammine, Tony
;
Boussios, Stergios
;
Pavlidis, Nicholas
;
Rassy, Elie
.
소스
European Journal of Cancer
. Sep2022, Vol. 172, p323-325. 3p.
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