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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
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study
저자
by
Raviglione, Federico
;
Douzgou, Sofia
;
Scala, Marcello
;
Mingarelli, Alessia
;
D'Arrigo, Stefano
, et al.
소스
In
Seizure: European Journal of Epilepsy
May 2021 88:60-72
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7 . Academic Journal
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants.
저자
by
Hoem, Gry
;
Pastore, Arianna
;
Bratland, Eirik
;
Christoffersen, Terje
;
Stornaiuolo, Mariano
, et al.
소스
Clinical Genetics
. Jun2024, Vol. 105 Issue 6, p661-665. 5p.
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7 . Academic Journal
DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults
저자
by
Ferris, Margaret A.
;
Smith, Amanda M.
;
Heath, Sharon E.
;
Duncavage, Eric J.
;
Oberley, Matthew
, et al.
소스
In
Blood
20 January 2022 139(3):461-464
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7 . Academic Journal
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly.
저자
by
Tkemaladze, Tinatin
;
Bratland, Eirik
;
Bregvadze, Kakha
;
Shatirishvili, Teona
;
Tatishvili, Nino
, et al.
소스
Clinical Dysmorphology; Jul2023, Vol. 32 Issue 3, p97-105, 9p
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7 . Academic Journal
FOXI3 pathogenic variants cause one form of craniofacial microsomia
저자
by
Mao, Ke
;
Borel, Christelle
;
Ansar, Muhammad
;
Jolly, Angad
;
Makrythanasis, Periklis
, et al.
소스
Nature Communications
. 14(1)
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7 . Periodical
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
저자
by
Palmer, Elizabeth E.
;
Pusch, Michael
;
Picollo, Alessandra
;
Forwood, Caitlin
;
Nguyen, Matthew H.
, et al.
소스
Molecular Psychiatry; February 2023, Vol. 28 Issue: 2 p668-697, 30p
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7 . Academic Journal
Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
저자
by
Wai, Htoo A.
;
Constable, Matthew
;
Drewes, Cosima
;
Davies, Ian C.
;
Svobodova, Eliska
, et al.
소스
Human Mutation; Jul2022, Vol. 43 Issue 7, p963-970, 8p
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7 . Academic Journal
Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism.
저자
by
Corder, Megan L.
;
Berland, Siren
;
Førsvoll, Jostein A.
;
Banerjee, Indraneel
;
Murray, Phil
, et al.
소스
American Journal of Medical Genetics. Part A; Apr2022, Vol. 188 Issue 4, p1065-1074, 10p
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7 . Academic Journal
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
저자
by
Lenassi, Eva
;
Clayton-Smith, Jill
;
Douzgou, Sofia
;
Ramsden, Simon C.
;
Ingram, Stuart
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):2023-2023
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