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1 . Academic Journal
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
저자
by
Agrawal, Pankaj
;
Armstrong Scott, Daryl
;
Barkoudah, Elizabeth
;
Bellini, Melissa
;
Beneteau, Claire
, et al.
소스
In
The American Journal of Human Genetics
7 March 2024 111(3):509-528
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7 . Academic Journal
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
저자
by
Freud, Lindsay R.
;
Galloway, Stephanie
;
Crowley, T. Blaine
;
Moldenhauer, Julie
;
Swillen, Ann
, et al.
소스
In
American Journal of Obstetrics and Gynecology
March 2024 230(3):368-368
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7 . Academic Journal
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
저자
by
Choufani, Sanaa
;
McNiven, Vanda
;
Cytrynbaum, Cheryl
;
Jangjoo, Maryam
;
Adam, Margaret P.
, et al.
소스
In
The American Journal of Human Genetics
6 October 2022 109(10):1867-1884
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7 . Academic Journal
Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease
저자
by
Janssens, Peter
;
Decuypere, Jean-Paul
;
De Rechter, Stéphanie
;
Breysem, Luc
;
Van Giel, Dorien
, et al.
소스
In
Kidney International Reports
June 2021 6(6):1687-1698
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7 . Academic Journal
Metal mining and birth defects: a case-control study in Lubumbashi, Democratic Republic of the Congo
저자
by
Van Brusselen, Daan
;
Kayembe-Kitenge, Tony
;
Mbuyi-Musanzayi, Sébastien
;
Lubala Kasole, Toni
;
Kabamba Ngombe, Leon
, et al.
소스
In
The Lancet Planetary Health
April 2020 4(4):e158-e167
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7 . Periodical
Expanding the phenotype of copy number variations involving NR0B1(DAX1)
저자
by
Veyt, Nathalie
;
Van Buggenhout, Griet
;
Devriendt, Koen
;
Van Den Bogaert, Kris
;
Brison, Nathalie
.
소스
European Journal of Human Genetics: EJHG; April 2024, Vol. 32 Issue: 4 p421-425, 5p
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7 . Academic Journal
Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene
저자
by
Dardour, Leila
;
Verleyen, Pieter
;
Lesage, Karl
;
Holvoet, Maureen
;
Devriendt, Koen
.
소스
In
European Journal of Medical Genetics
October 2016 59(10):499-501
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7 . Academic Journal
Congenital sternoclavicular dermoid sinus
저자
by
Willaert, Annelore
;
Bruninx, Liesje
;
Hens, Greet
;
Hauben, Esther
;
Devriendt, Koen
, et al.
소스
In
International Journal of Pediatric Otorhinolaryngology
February 2016 81:65-67
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7 . Academic Journal
NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations
저자
by
Dietvorst, Sofie
;
Devriendt, Koen
;
Lambert, Julie
;
Boogaerts, Anneleen
;
Van Den Bogaert, Kris
, et al.
소스
In
European Journal of Medical Genetics
April 2023 66(4)
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7 . Academic Journal
What helps define outcomes in persistent uninterpretable non‐invasive prenatal testing: Maternal factors, fetal fraction or quality scores?
저자
by
Lannoo, Lore
;
Van Camp, Joke
;
Brison, Nathalie
;
Parijs, Ilse
;
Vancoillie, Leen
, et al.
소스
Prenatal Diagnosis; Sep2023, Vol. 43 Issue 10, p1333-1343, 11p
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