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1 . Academic Journal
P614: The clinical genome: Validation data beyond clinical exome
저자
by
Kornelia Tripolszki
;
Melina Bilinski
;
Matthias Bieg
;
Anett Marais
;
Catarina Pereira
, et al.
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Genetics in Medicine Open, Vol 2, Iss , Pp 101520- (2024)
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7 . Academic Journal
P427: Beyond genomics: Using RNA-seq in filter cards to unlock the clinical relevance of noncoding variation in splicing
저자
by
Ruslan Al-Ali
;
Mandy Radefeldt
;
Sabrina Lemke
;
Jorge Pinto-Basto
;
Peter Bauer
.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100474- (2023)
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7 . Academic Journal
P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita
저자
by
Kornelia Tripolszki
;
Javier Martini
;
Kapil Kampe
;
Vasiliki Karageorgou
;
Mohamed Almuhaizea
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100623- (2023)
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7 . Academic Journal
Genomic imbalances defining novel intellectual disability associated loci
저자
by
Fátima Lopes
;
Fátima Torres
;
Gabriela Soares
;
Mafalda Barbosa
;
João Silva
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
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7 . Academic Journal
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease
저자
by
Fátima Lopes
;
Gabriela Soares
;
Miguel Gonçalves-Rocha
;
Jorge Pinto-Basto
;
Patrícia Maciel
.
소스
Frontiers in Genetics, Vol 8 (2017)
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7 . Academic Journal
A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis
저자
by
Hugo M Oliveira
;
Claudia Pereira
;
Ermelinda Santos-Silva
;
Jorge Pinto-Basto
;
José R Vizcaíno
, et al.
소스
European Journal of Case Reports in Internal Medicine, Vol 4, Iss 2 (2017)
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7 . Academic Journal
Osteopatia estriada com esclerose craniana.
저자
by
Mafalda Barbosa
;
Bram Perdu
;
Virgílio Senra
;
Filipe Macedo
;
Wim Van Hul
, et al.
소스
Acta Médica Portuguesa, Vol 23, Iss 6 (2010)
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7 .
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
저자
by
Belinda Campos-Xavier
;
Noriko Miyake
;
Andrea Superti-Furga
;
Gabriela Ferraz Leal
;
Mathieu Quinodoz
, et al.
소스
Genetics in Medicine
Genetics in medicine, vol. 21, no. 12, pp. 2734-2743
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7 .
A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters
저자
by
Jorge Salazar-Vega
;
Jorge Pinto-Basto
;
G. Burgos
;
Arianne Llamos
;
Diego Gómez-Correa
, et al.
소스
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
. 36(1)
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7 .
A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters
저자
by
Diego Gómez-Correa
;
Ana M Tito-Álvarez
;
Jorge Pinto-Basto
;
Estefanía Espín
;
Ivan Dueñas-Espín
, et al.
소스
Proceedings of MOL2NET 2019, International Conference on Multidisciplinary Sciences, 5th edition
.
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