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1 . Academic Journal
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
저자
by
Terhal, Paulien
;
Venhuizen, Anton J.
;
Lessel, Davor
;
Tan, Wen-Hann
;
Alswaid, Abdulrahman
, et al.
소스
In
The American Journal of Human Genetics
7 September 2023 110(9):1470-1481
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7 . Academic Journal
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
저자
by
Faqeih, Eissa A.
;
Alghamdi, Malak Ali
;
Almahroos, Marwa A.
;
Alharby, Essa
;
Almuntashri, Makki
, et al.
소스
In
Genetics in Medicine
February 2023 25(2)
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7 . Academic Journal
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
저자
by
Hannah, Michael G.
;
Bugiardini, Enrico
;
Bertini, Enrico
;
Kriouile, Yamna
;
El-Khorassani, Mohamed
, et al.
소스
In
The American Journal of Human Genetics
4 January 2024 111(1):200-210
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7 . Academic Journal
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
저자
by
Kaiyrzhanov, Rauan
;
Rad, Aboulfazl
;
Lin, Sheng-Jia
;
Bertoli-Avella, Aida
;
Kallemeijn, Wouter W
, et al.
소스
Brain: A Journal of Neurology
. Apr2024, Vol. 147 Issue 4, p1436-1456. 21p.
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7 . Academic Journal
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder
저자
by
Westrip, Christian A.E.
;
Paul, Franziska
;
Al-Murshedi, Fathiya
;
Qaitoon, Hashim
;
Cham, Breana
, et al.
소스
In
Genetics in Medicine
September 2023 25(9)
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7 . Academic Journal
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
저자
by
Thomas, Quentin
;
Motta, Marialetizia
;
Gautier, Thierry
;
Zaki, Maha S.
;
Ciolfi, Andrea
, et al.
소스
In
The American Journal of Human Genetics
6 October 2022 109(10):1909-1922
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7 . Periodical
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
저자
by
Chundru, V. Kartik
;
Zhang, Zhancheng
;
Walter, Klaudia
;
Lindsay, Sarah J.
;
Danecek, Petr
, et al.
소스
Nature Genetics; 20240101, Issue: Preprints p1-8, 8p
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7 . Periodical
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases
저자
by
Velasco, Harvy Mauricio
;
Bertoli-Avella, Aida
;
Jaramillo, Carolina Jaramillo
;
Cardona, Danny Styvens
;
González, Leonel Andrés
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-11, 11p
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7 . Academic Journal
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
저자
by
Shamseldin, Hanan E.
;
Sadagopan, Mukunth
;
Martini, Javier
;
Al-Ali, Ruslan
;
Radefeldt, Mandy
, et al.
소스
Human Genetics
. Oct2023, Vol. 142 Issue 10, p1491-1498. 8p.
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7 . Periodical
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
저자
by
Guatibonza Moreno, Pilar
;
Pardo, Luba M.
;
Pereira, Catarina
;
Schroeder, Sabine
;
Vagiri, Deepthi
, et al.
소스
European Journal of Human Genetics: EJHG; October 2023, Vol. 31 Issue: 10 p1108-1116, 9p
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