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1 . Academic Journal
Townes-Brocks syndrome with craniosynostosis in two siblings
저자
by
Lugli, Licia
;
Rossi, Cecilia
;
Ceccarelli, Pier Luca
;
Calabrese, Olga
;
Bedetti, Luca
, et al.
소스
In
European Journal of Medical Genetics
December 2022 65(12)
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7 . Academic Journal
Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings
저자
by
Lugli, Licia
;
Ciancia, Silvia
;
Bertucci, Emma
;
Lucaccioni, Laura
;
Calabrese, Olga
, et al.
소스
In
European Journal of Medical Genetics
February 2021 64(2)
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7 . Academic Journal
Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome
저자
by
Laterza, Domenico
;
Ritelli, Marco
;
Zini, Andrea
;
Colombi, Marina
;
Dell'Acqua, Maria Luisa
, et al.
소스
In
European Journal of Medical Genetics
October 2019 62(10)
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7 . Academic Journal
The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.
저자
by
Ciancia, Silvia
;
Madeo, Simona Filomena
;
Calabrese, Olga
;
Iughetti, Lorenzo
.
소스
Children; May2024, Vol. 11 Issue 5, p578, 15p
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6 . Academic Journal
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.
저자
by
Rosina, Erica
;
Pezzani, Lidia
;
Pezzoli, Laura
;
Marchetti, Daniela
;
Bellini, Matteo
, et al.
소스
Genes
. Jul2022, Vol. 13 Issue 7, p1275-1275. 11p.
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7 . Periodical
Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)
저자
by
Grati, Francesca Romana
;
Bestetti, Ilaria
;
de Siero, Daria
;
Malvestiti, Francesca
;
Villa, Nicoletta
, et al.
소스
Obstetrical and Gynecological Survey; June 2023, Vol. 78 Issue: 6 p318-320, 3p
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7 . Academic Journal
Copy Number Variation Analysis Increases the Number of Candidate Loci Associated with Pediatric Obesity.
저자
by
Madeo, Simona Filomena
;
Stanghellini, Ilaria
;
Predieri, Barbara
;
Ciancia, Silvia
;
Leo, Francesco
, et al.
소스
Hormone Research in Paediatrics
. 2021, Vol. 94 Issue 7/8, p251-262. 12p.
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7 .
Cannonball-Like Lung Nodules in a Patient With a Colorectal Tumor
저자
by
Scamporlino, Adriana
;
Mengoli, Maria Cecilia
;
Calabrese, Olga
;
Della Casa, Giovanni
;
Aramini, Beatrice
, et al.
소스
In
Chest
October 2019 156(4):e85-e89
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7 . Academic Journal
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations
저자
by
Migliore, Chiara
;
Athanasakis, Emmanouil
;
Dahoun, Sophie
;
Wonkam, Ambroise
;
Lees, Melissa
, et al.
소스
In
European Journal of Medical Genetics
August 2013 56(8):404-410
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7 . Periodical
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
저자
by
Whalen, Sandra
;
Shaw, Marie
;
Mignot, Cyril
;
Héron, Delphine
;
Bastaraud, Sandra Chantot
, et al.
소스
European Journal of Human Genetics: EJHG; September 2021, Vol. 29 Issue: 9 p1405-1417, 13p
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