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1 . Academic Journal
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
저자
by
Marwan Nashabat
;
Nasrinsadat Nabavizadeh
;
Hilal Pırıl Saraçoğlu
;
Burak Sarıbaş
;
Şahin Avcı
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
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7 . Academic Journal
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
저자
by
Ghada M. H. Abdel-Salam
;
Susanne Hellmuth
;
Elise Gradhand
;
Stephan Käseberg
;
Jennifer Winter
, et al.
소스
JCI Insight, Vol 8, Iss 22 (2023)
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7 . Academic Journal
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
저자
by
Majid Alfadhel
;
Mohammed Almuqbil
;
Fuad Al Mutairi
;
Muhammad Umair
;
Mohammed Almannai
, et al.
소스
Frontiers in Pediatrics, Vol 9 (2021)
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7 .
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
저자
by
Uwe Kornak
;
Namrata Saha
;
Boris Keren
;
Alexander Neumann
;
Ana Lisa Taylor Tavares
, et al.
소스
Genetics in Medicine
. 24:1927-1940
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7 .
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
저자
by
Aida Bertoli-Avella
;
Ronja Hotakainen
;
Maryam Al Shehhi
;
Alice Urzi
;
Catarina Pareira
, et al.
소스
Journal of Medical Genetics, 59, 993-1001
Journal of Medical Genetics, 59, 10, pp. 993-1001
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7 .
Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder
저자
by
Christian A. E. Westrip
;
Franziska Paul
;
Fathiya Al-Murshedi
;
Hashim Qaitoon
;
Breana Cham
, et al.
소스
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7 .
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
저자
by
Eissa A. Faqeih
;
Malak Ali Alghamdi
;
Marwa A. Almahroos
;
Essa Alharby
;
Makki Almuntashri
, et al.
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7 .
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome
저자
by
Fabiano de Oliveira Poswar
;
Jonas Alex Morales Saute
;
Thayne Woycinck Kowalski
;
Aida Bertoli-Avella
;
Augusto César Cardoso-dos-Santos
, et al.
소스
Molecular Syndromology
. 11:24-29
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7 .
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
저자
by
Elisa Rahikkala
;
Lea Urpa
;
Bishwa Ghimire
;
Hande Topa
;
Mitja I. Kurki
, et al.
소스
European journal of human genetics : EJHG
. 30(5)
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7 .
OP033: An integrated multiomic panel as an excellent tool for the genetic diagnosis of metabolic diseases: Our first 3,720 patients
저자
by
Ligia Almeida
;
Catarina Pereira
;
Ruxandra Aanicai
;
Sabine Schröder
;
Tomasz Bochinski
, et al.
소스
Genetics in Medicine
. 24:S361
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