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1 . Academic Journal
New microdeletion and microduplication syndromes: a comprehensive review
저자
by
Nevado, Julián
;
Mergener, Rafaella
;
Palomares-Bralo, María
;
Souza, Karen Regina
;
Vallespín, Elena
, et al.
소스
Genetics and Molecular Biology
. January 2014 37(1)
Open Access (SciELO)
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7 . Academic Journal
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
저자
by
Palma-Milla, Carmen
;
Prat-Planas, Aina
;
Soengas-Gonda, Emma
;
Centeno-Pla, Mónica
;
Sánchez-Pozo, Jaime
, et al.
소스
In
Pediatric Neurology
June 2024 155:8-17
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7 . Academic Journal
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
저자
by
Denommé-Pichon, Anne-Sophie
;
Collins, Stephan C.
;
Bruel, Ange-Line
;
Mikhaleva, Anna
;
Wagner, Christel
, et al.
소스
In
Genetics in Medicine
July 2023 25(7)
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7 . Academic Journal
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype
저자
by
Santos-Simarro, Fernando
;
Pacio, Marta
;
Cueto-González, Anna María
;
Mansilla, Elena
;
Valenzuela-Palafoll, María Irene
, et al.
소스
In
European Journal of Medical Genetics
November 2021 64(11)
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7 . Academic Journal
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
저자
by
Rodan, Lance H.
;
Spillmann, Rebecca C.
;
Kurata, Harley T.
;
Lamothe, Shawn M.
;
Maghera, Jasmine
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1922-1932
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7 . Academic Journal
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
저자
by
van der Laan, Liselot
;
Lauffer, Peter
;
Rooney, Kathleen
;
Silva, Ananília
;
Haghshenas, Sadegheh
, et al.
소스
In
Human Genetics and Genomics Advances
18 July 2024 5(3)
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7 . Academic Journal
In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype
저자
by
Fernández, Luis
;
Tenorio, Jair
;
Polo-Vaquero, Coral
;
Vallespín, Elena
;
Palomares-Bralo, María
, et al.
소스
In
Revista Española de Cardiología (English Edition)
July 2018 71(7):545-552
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7 . Periodical
The neurodevelopmental and facial phenotype in individuals with a TRIP12variant
저자
by
Aerden, Mio
;
Denommé-Pichon, Anne-Sophie
;
Bonneau, Dominique
;
Bruel, Ange-Line
;
Delanne, Julian
, et al.
소스
European Journal of Human Genetics: EJHG; April 2023, Vol. 31 Issue: 4 p461-468, 8p
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7 . Periodical
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
저자
by
Martinez-Cayuelas, Elena
;
Blanco-Kelly, Fiona
;
Lopez-Grondona, Fermina
;
Swafiri, Saoud Tahsin
;
Lopez-Rodriguez, Rosario
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 7 p644-654, 11p
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7 . Academic Journal
Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
저자
by
Pacio‐Miguez, Marta
;
Parrón‐Pajares, Manuel
;
Gordon, Christopher T.
;
Santos‐Simarro, Fernando
;
Rodríguez Jiménez, Carmen
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2819-2824, 6p
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