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1 . Academic Journal
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
저자
by
Borras, Silvia
;
Clark, Caroline
;
Dean, John
;
Miedzybrodzka, Zosia
;
Ross, Alison
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
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7 . Academic Journal
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
저자
by
McDonagh, Ellen M
;
Rueda, Antonio
;
Polychronopoulos, Dimitris
;
Chan, Georgia
;
Angus-Leppan, Heather
, et al.
소스
In
The Lancet Neurology
March 2022 21(3):234-245
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7 . Academic Journal
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals
저자
by
Ricci, Emilia
;
Fetta, Anna
;
Garavelli, Livia
;
Caraffi, Stefano
;
Ivanovski, Ivan
, et al.
소스
In
Epilepsy & Behavior
November 2021 124
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7 . Academic Journal
Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry
저자
by
Faravelli, Francesca
;
Pantaleoni, Chiara
;
Robert-Gnansia, Elisabeth
;
Cabral-Lim, Leonor
;
Čebular, Boštjan
, et al.
소스
In
The Lancet Neurology
June 2018 17(6):530-538
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7 . Academic Journal
F27. NORTH THAMES GENOMIC MEDICINE SERVICE ALLIANCE LOCAL TRANSFORMATION PROJECT: EMBEDDING GENOMIC MEDICINE IN MENTAL HEALTH SERVICES - A PILOT PROJECT IN INTELLECTUAL DISABILITY AND DEMENTIA SERVICES
저자
by
Bass, Nicholas
;
Ryves, Paul
;
Trim, Corinne
;
Faravelli, Francesca
;
Raheem, Ali
, et al.
소스
In
European Neuropsychopharmacology
October 2023 75 Supplement 1:S234-S235
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7 . Academic Journal
A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype
저자
by
Cecconi, Massimiliano
;
Forzano, Francesca
;
Rinaldi, Rosanna
;
Cappellacci, Sandra
;
Grammatico, Paola
, et al.
소스
In
The Journal of Molecular Diagnostics
2008 10(3):272-275
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7 . Academic Journal
Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.
저자
by
McGlacken-Byrne, Sinéad M.
;
Abdelmaksoud, Ashraf
;
Haini, Mohammad
;
Palm, Liina
;
Ashworth, Michael
, et al.
소스
European Journal of Endocrinology
. Dec2022, Vol. 187 Issue 6, pK55-K61. 7p.
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7 .
Absent abdominal musculature in a girl
저자
by
Bockenhauer, Detlef
;
Mushtaq, Imran
;
Faravelli, Francesca
.
소스
In
Kidney International
April 2022 101(4):833-833
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5 . Academic Journal
3q26.33–3q27.2 microdeletion: A new microdeletion syndrome?
저자
by
Mandrile, Giorgia
;
Dubois, Anna
;
Hoffman, Jodi D.
;
Uliana, Vera
;
Di Maria, Emilio
, et al.
소스
In
European Journal of Medical Genetics
April 2013 56(4):216-221
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7 . Academic Journal
19q13 microdeletion syndrome: Further refining the critical region
저자
by
Forzano, Francesca
;
Napoli, Flavia
;
Uliana, Vera
;
Malacarne, Michela
;
Viaggi, Chiara
, et al.
소스
In
European Journal of Medical Genetics
June-July 2012 55(6-7):429-432
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