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Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaHomozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentationMolecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaDe Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunctionFurther characterization of ATP6V0A2-related autosomal recessive cutis laxaSOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancySclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1MutationDistiller: user-driven identification of pathogenic DNA variantsHaploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
P50
Q28115510-189B2014-3479-4316-807B-F1C3EC416635Q28117328-44003FDC-35B3-4453-AB7E-7D864A041903Q30316749-CE9682F1-7D79-4379-A406-E39E0B2933DCQ34564059-3A95771C-6688-429A-A1E0-78B6234B54EAQ34657870-0D4DCEA5-DB91-4555-812A-5A7FFEC02E57Q37378142-E49D3E18-5CED-4F03-B1F3-60EBA5AFF02AQ39413258-77A40A3C-448C-4071-A11C-D9F0D88CB5CBQ41826191-295489BD-B7C8-422D-BE6F-DC51D6AAF78AQ41826191-3450B04D-AD5A-49A7-A35A-9D5985837DD5Q46007910-4A33891A-4DBA-461A-85CE-C6392E6EFA5DQ47444829-6FCEADE4-4B6E-4080-821D-4F4497D9D54BQ52131901-2FFE51A0-26A5-4906-85C8-33F7045FC327Q52857362-C291A5BF-9CC6-43E0-9880-B5C858290174Q52866332-F7979D7B-9EB7-4BD5-966D-88AF3C59D1A6Q54677816-7F2B6728-B20C-4A67-9B54-D7D265B8FB59Q55054634-3754B60D-D7C8-407F-8602-CA5F133C2855Q56965885-18F8F440-17DE-4D8C-96AA-524CAC511DDCQ58545518-D11DFA46-E2D0-4DED-98F9-0F88D8DA1F6BQ84543285-A28B7482-BE04-48FD-8C53-3A9D2DA5C9B8Q90253333-598E1650-E4FD-4CDE-BEEA-75C4A4EA4331Q90407677-3ACB2976-9CFD-456A-8AF3-AE20C7F97B70Q92148874-19D1AD32-A50C-4F1E-9954-0B800A0BFD9CQ92229343-7D99E3E3-C179-4BF7-A0B8-14ED21E118ED
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Björn Fischer-Zirnsak
@ast
Björn Fischer-Zirnsak
@en
Björn Fischer-Zirnsak
@es
Björn Fischer-Zirnsak
@nl
Björn Fischer-Zirnsak
@sl
type
label
Björn Fischer-Zirnsak
@ast
Björn Fischer-Zirnsak
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Björn Fischer-Zirnsak
@es
Björn Fischer-Zirnsak
@nl
Björn Fischer-Zirnsak
@sl
prefLabel
Björn Fischer-Zirnsak
@ast
Björn Fischer-Zirnsak
@en
Björn Fischer-Zirnsak
@es
Björn Fischer-Zirnsak
@nl
Björn Fischer-Zirnsak
@sl
P1053
D-7487-2013
P106
P108
P21
P31
P3829
P496
0000-0002-1075-7571