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1 . Academic Journal
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene
저자
by
Giulia Bruna Marchetti
;
Donatella Milani
;
Livia Pisciotta
;
Laura Pezzoli
;
Paola Marchisio
, et al.
소스
Genes, Vol 15, Iss 6, p 654 (2024)
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7 . Academic Journal
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
저자
by
Francesca Di Lorenzo
;
Enrica Marchionni
;
Valentina Ferradini
;
Andrea Latini
;
Laura Pezzoli
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2490 (2023)
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7 . Academic Journal
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients
저자
by
Erica Rosina
;
Lidia Pezzani
;
Laura Pezzoli
;
Daniela Marchetti
;
Matteo Bellini
, et al.
소스
Genes, Vol 13, Iss 7, p 1275 (2022)
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7 . Academic Journal
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management
저자
by
Laura Pezzoli
;
Lidia Pezzani
;
Ezio Bonanomi
;
Chiara Marrone
;
Agnese Scatigno
, et al.
소스
Journal of Cardiovascular Development and Disease, Vol 9, Iss 1, p 2 (2021)
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7 . Academic Journal
Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome
저자
by
Catia Mio
;
Federico Fogolari
;
Laura Pezzoli
;
Angela V. D’Elia
;
Maria Iascone
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
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7 . Academic Journal
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
저자
by
Lidia Pezzani
;
Laura Pezzoli
;
Alessandra Pansa
;
Barbara Facchinetti
;
Daniela Marchetti
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
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7 . Academic Journal
A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.
저자
by
Maria Elena Sana
;
Lawrence A Quilliam
;
Andrea Spitaleri
;
Laura Pezzoli
;
Daniela Marchetti
, et al.
소스
PLoS ONE, Vol 11, Iss 12, p e0168501 (2016)
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7 .
Rock around DYRK1A : Ethnic diversity, clinical challenges
저자
by
Alice Moroni
;
Lidia Pezzani
;
Enrico Alfei
;
Agnese Scatigno
;
Anna Cereda
, et al.
소스
American Journal of Medical Genetics Part A
. 191:1459-1464
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7 .
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW ‐related prenatal findings
저자
by
Luisa Ronzoni
;
Simona Boito
;
Camilla Meossi
;
Claudia Cesaretti
;
Berardo Rinaldi
, et al.
소스
Prenatal Diagnosis
. 42:1493-1502
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7 .
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene
저자
by
Federica Ruscitti
;
Maria Cerminara
;
Maria Iascone
;
Laura Pezzoli
;
Giulia Rosti
, et al.
소스
Birth Defects Research
. 114:674-681
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