1[期刊论文]

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome

作者：Janina Gburek-Augustat ;Stefanie Beck-Woedl ;Andreas Tzschach 等

来源：European Journal of Paediatric Neurology. 2016 ;20(4):661-665.doi:10.1016/j.ejpn.2016.04.005

出版社：Elsevier BV

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2[期刊论文]

Blue Diaper Syndrome and PCSK1 Mutations

作者：Felix Distelmaier ;Diran Herebian ;Claudia Atasever 等

来源：PEDIATRICS. 2018 ;141(Supplement 5):S501-S505.doi:10.1542/peds.2017-0548

出版社：American Academy of Pediatrics (AAP)

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3[期刊论文]

Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

作者：Janina Gburek-Augustat ;Samuel Groeschel ;Jan Kern 等

来源：Neuropediatrics. 2019 ;.doi:10.1055/s-0039-1698451

出版社：Georg Thieme Verlag Stuttgart

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4[期刊论文]

Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

作者：Janina Gburek-Augustat ;Samuel Groeschel ;Jan Kern 等

来源：ACI Open. 0 ;.doi:10.1055/s-0039-1698451

出版社：Georg Thieme Verlag Stuttgart

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5[期刊论文]

Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

作者：Janina Gburek-Augustat ;Samuel Groeschel ;Jan Kern 等

来源：Neuropediatrics. 2020 ;51(01):037-044.doi:10.1055/s-0039-1698451

出版社：Georg Thieme Verlag Stuttgart

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6[期刊论文]

GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

作者：Alexander Mensch ;Isabell Cordts ;Leila Scholle 等

来源：Journal of Neuromuscular Diseases. 2022 ;9(4):533-541.doi:10.3233/JND-220822

出版社：IOS Press

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7[期刊论文]

Novel homozygous LAMB1 in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event

作者：Louiza Toutouna ;Stefanie Beck‐Woedl ;Ursula Feige 等

来源：American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2023 ;191(10):2656-2663.doi:10.1002/ajmg.a.63349

出版社：John Wiley & Sons, Ltd.

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8[期刊论文]

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

作者：Björn Fischer-Zirnsak ;Rainer Koenig ;Franz Alisch 等

来源：Journal of Human Genetics. 2019 ;64(7):609-616.doi:10.1038/s10038-019-0602-8

出版社：Springer Nature

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9[期刊论文]

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

作者：Ute Grasshoff ;Michael Bonin ;Ina Goehring 等

来源：European Journal of Human Genetics. 2011 ;19(5):507-512.doi:10.1038/ejhg.2010.226

出版社：Springer Nature

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10[期刊论文]

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

作者：Stefanie Beck‐Woedl ;Heiko Brennenstuhl ;Christian P. Schaaf 等

来源：Human Mutation. 2021 ;42(9):1094-1100.doi:10.1002/humu.24245

出版社：John Wiley & Sons, Ltd.

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