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1 . Academic Journal
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome
저자
by
Maria Elena Onore
;
Martina Caiazza
;
Antonella Farina
;
Gioacchino Scarano
;
Alberto Budillon
, et al.
소스
Genes, Vol 15, Iss 1, p 32 (2023)
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7 . Academic Journal
The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience
저자
by
Mohamad Maghnie
;
Paolo Bruzzi
;
Giorgio Casilli
;
Dario Lidonnici
;
Gioacchino Scarano
.
소스
Frontiers in Pediatrics, Vol 11 (2023)
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7 . Academic Journal
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II
저자
by
Flaviana Marzano
;
Matteo Chiara
;
Arianna Consiglio
;
Gabriele D’Amato
;
Mattia Gentile
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 15, p 12291 (2023)
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7 . Academic Journal
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect
저자
by
Paolo Fontana
;
Alberto Budillon
;
Domenico Simeone
;
Francesca Del Vecchio Blanco
;
Martina Caiazza
, et al.
소스
Genes, Vol 14, Iss 7, p 1444 (2023)
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7 . Academic Journal
Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer
저자
by
Francesco Cecere
;
Laura Pignata
;
Bruno Hay Mele
;
Abu Saadat
;
Emilia D’Angelo
, et al.
소스
Cancers, Vol 15, Iss 7, p 1944 (2023)
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7 . Academic Journal
Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report
저자
by
Giovanna Tritto
;
Ivana Ricca
;
Marco Turi
;
Andrea Gemma
;
Filippo Muratori
, et al.
소스
Children, Vol 8, Iss 6, p 518 (2021)
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7 . Academic Journal
Molecular analysis of holoprosencephaly in South America
저자
by
Clarice Pagani Savastano
;
Kênia Balbi El-Jaick
;
Marcelo Aguiar Costa-Lima
;
Cristina Maria Batista Abath
;
Sebastiano Bianca
, et al.
소스
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 250-262 (2014)
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7 .
Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an 'ultrasound first' approach
저자
by
Paolo Fontana
;
Emanuele Agolini
;
Dario Cocciadiferro
;
Laura Letizia Mazzarelli
;
Aniello Di Meglio
, et al.
소스
The Journal of Maternal-Fetal & Neonatal Medicine
. 36
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7 .
Cardiovascular Involvement in mtDNA Disease
저자
by
Giulia d'Amati
;
Simone Sampaolo
;
Martina Caiazza
;
Adelaide Fusco
;
Karim Wahbi
, et al.
소스
Heart Failure Clinics
. 18:51-60
Full Text (Clinical Key)
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7 .
Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia
저자
by
Martina Caiazza
;
Adelaide Fusco
;
Silvia Passantino
;
Francesco Di Fraia
;
Alfredo Mauriello
, et al.
소스
Heart Failure Clinics
. 18:31-37
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