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1 . Academic Journal
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts
저자
by
Elizabeth E. Blue
;
Samuel J. Huang
;
Alyna Khan
;
Katie Golden-Grant
;
Brenna Boyd
, et al.
소스
Rare, Vol 2, Iss , Pp 100040- (2024)
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7 . Academic Journal
P210: Unexpected recurrence of vascular Ehlers-Danlos syndrome in sibships due to parental mosaicism for COL3A1 variants
저자
by
Kenzie Conner
;
Ulrike Schwarze
;
Peter Byers
;
Dru Leistritz
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101107- (2024)
Full Text (ScienceDirect)
Full Text (Clinical Key)
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6 . Academic Journal
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
저자
by
Jonai Pujol‐Giménez
;
Ghayda Mirzaa
;
Elizabeth E. Blue
;
Giuseppe Albano
;
Danny E. Miller
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 1046-1053 (2023)
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Scopus
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7 . Academic Journal
Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations
저자
by
Charlotte Gistelinck
;
MaryAnn Weis
;
Jyoti Rai
;
Ulrike Schwarze
;
Dmitriy Niyazov
, et al.
소스
JBMR Plus, Vol 5, Iss 3, Pp n/a-n/a (2021)
Open Access (Wiley)
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7 . Academic Journal
Ventral striatal activity correlates with memory confidence for old- and new-responses in a difficult recognition test.
저자
by
Ulrike Schwarze
;
Ulrike Bingel
;
David Badre
;
Tobias Sommer
.
소스
PLoS ONE, Vol 8, Iss 3, p e54324 (2013)
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6 .
Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome
저자
by
Sherene Shalhub
;
Reginald Nkansah
;
Asmaa El-Ghazali
;
Charles J. Hillenbrand
;
Sandeep S. Vaidya
, et al.
소스
Journal of Vascular Surgery
.
Scopus
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7 .
Marfan syndrome resulting from a rare pathogenic
FBN1
variant, ascertained through a proband with
IgG4
‐related arteriopathy
저자
by
Genevieve M. Gabb
;
Leonard F Arnolda
;
Peter H. Byers
;
Nadia Clare Wise
;
John P. Slavotinek
, et al.
소스
American journal of medical genetics. Part A, 185(7), 2180-2189. Wiley-Liss Inc.
American Journal of Medical Genetics, Part A, 185(7), 2180-2189. Wiley-Liss Inc.
Web of Science
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7 .
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature
저자
by
Poh Choo Khoo
;
Jiin Ying Lim
;
Rashida Farhad Vasanwala
;
Neha Singh Bhatia
;
Kevin Boon Leong Lim
, et al.
소스
Clinical Dysmorphology
. 28:118-123
Full Text (LWW)
Web of Science
Scopus
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7 .
Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous
PLOD2
Mutations
저자
by
Ulrike Schwarze
;
Charlotte Gistelinck
;
MaryAnn Weis
;
Jyoti Rai
;
Peter H. Byers
, et al.
소스
JBMR Plus, Vol 5, Iss 3, Pp n/a-n/a (2021)
JBMR Plus
Open Access (OpenAIRE)
Scopus
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7 .
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
저자
by
Jyoti Rai
;
Bente L. Langdahl
;
Paul Roschger
;
Tim Cundy
;
Marta Szybowska
, et al.
소스
Journal of Bone and Mineral Research
. 33:1260-1271
Full Text (OUP)
Open Access (OpenAIRE)
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