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1 . Academic Journal
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
저자
by
Scala, Marcello
;
Khan, Kamal
;
Beneteau, Claire
;
Fox, Rachel G.
;
von Hardenberg, Sandra
, et al.
소스
In
Genetics in Medicine
April 2024 26(4)
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7 . Academic Journal
Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia
저자
by
Kamp, Jan C.
;
Neubert, Lavinia
;
Schupp, Jonas C.
;
Braubach, Peter
;
Wrede, Christoph
, et al.
소스
In
The American Journal of Pathology
October 2023
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7 . Academic Journal
Current genetic diagnostics in inborn errors of immunity.
저자
by
von Hardenberg, Sandra
;
Klefenz, Isabel
;
Steinemann, Doris
;
Di Donato, Nataliya
;
Baumann, Ulrich
, et al.
소스
Frontiers in Pediatrics; 2024, p1-13, 13p
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7 . Academic Journal
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.
저자
by
Staar, Ben O.
;
Hegermann, Jan
;
Auber, Bernd
;
Ewen, Raphael
;
von Hardenberg, Sandra
, et al.
소스
Cells (2073-4409)
. Nov2023, Vol. 12 Issue 22, p2651. 14p.
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7 . Academic Journal
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
저자
by
Schütz, Katharina
;
Schmidt, Axel
;
Schwerk, Nicolaus
;
Renz, Diane Miriam
;
Gerard, Benedicte
, et al.
소스
Pediatric Pulmonology; Nov2023, Vol. 58 Issue 11, p3095-3105, 11p
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7 . Academic Journal
Diagnostic genomic sequencing in critically ill children
저자
by
Auber, Bernd
;
Schmidt, Gunnar
;
Du, Chen
;
von Hardenberg, Sandra
.
소스
Medizinische Genetik
. 35(2):105-112
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6 . Academic Journal
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
저자
by
Strong, Alanna
;
Rao, Soumya
;
von Hardenberg, Sandra
;
Li, Dong
;
Cox, Liza L.
, et al.
소스
American Journal of Medical Genetics. Part A; May2023, Vol. 191 Issue 5, p1227-1239, 13p
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7 . Academic Journal
A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia
저자
by
Sogkas, Georgios
;
Adriawan, Ignatius R.
;
Ringshausen, Felix C.
;
Baumann, Ulrich
;
Schröder, Claudia
, et al.
소스
In
Clinical Immunology
January 2020 210
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7 . Academic Journal
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
저자
by
Poker, Yvonne
;
von Hardenberg, Sandra
;
Hofmann, Winfried
;
Ming Tang
;
Baumann, Ulrich
, et al.
소스
Frontiers in Genetics; 1/27/2023, Vol. 14, p1-11, 11p
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7 . Academic Journal
CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis.
저자
by
Olfe, Lisa
;
von Hardenberg, Sandra
;
Hofmann, Winfried
;
Auber, Bernd
;
Baumann, Ulrich
, et al.
소스
International Archives of Allergy & Immunology
. 2023, Vol. 184 Issue 1, p76-84. 9p.
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