Malte Spielmann - Brigham and Women’s Hospital, Harvard Medical School

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论文共 187 篇作者统计合作学者相似作者

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[Retinopathy of Prematurity in a Pair of Premature Twins-a Discordant Case]

Stefanie Gniesmer, Viktorija Belousova, Roya Piria, Julius Caspar Rotering,Guido Stichtenoth,Malte Spielmann,Andreas Stahl,Salvatore Grisanti

Die Ophthalmologie (2025)

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Author Response for "haplotype Phasing of Biallelic WNT10B Variants Using Long‐Read Sequencing in Split‐Hand/Foot Malformation Syndrome"

Jelena Pozojevic,Naseebullah Kakar,Henrike L. Sczakiel,Nathalie Kruse,Kristian Händler,Saranya Balachandran, Varun Sreenivasan,Martin A. Mensah,Malte Spielmann

crossref（2025）

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Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome

Jelena Pozojevic,Naseebullah Kakar,Henrike L. Sczakiel,Nathalie Kruse,Kristian Haendler,Saranya Balachandran, Varun Sreenivasan,Martin A. Mensah,Malte Spielmann

CLINICAL GENETICS（2025）

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Investigating the Molecular Genetic Basis of Hereditary Spastic Paraplegia Due to a Large Chromosomal Insertion in the SOX3 Topologically Associating Domain

Thorkild Terkelsen, Veronica Patricia Yumiceba Corral,Kristin Schultz,Uira Melo,Fabia Febbraro,Esben Axelgaard,Rikke Christensen,Anders Gunnarsson,Thomas Thelle,Mette Nyegaard,Rasmus O. Bak,Mark Denham,Malte Spielmann,Uffe B. Jensen

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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LINE1-mediated Epigenetic Repression of Androgen Receptor Transcription Causes Androgen Insensitivity Syndrome

Jelena Pozojevic, Radhika Sivaprasad,Joshua Lass, Franziska Haarich,Joanne Trinh,Naseebullah Kakar, Kristin Schulz,Kristian Haendler,Annemarie A. Verrijn Stuart,Jacques C. Giltay,Koen L. van Gassen,Almuth Caliebe,Paul-Martin Holterhus,Malte Spielmann,Nadine C. Hornig

Scientific Reportsno. 1 (2024)

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Unveiling DHT-driven Androgen Receptor Target Genes in Genital Skin Fibroblasts

Radhika Sivaprasad,Kristian Handler,Saranya Balachandran,Almuth Caliebe,Malte Spielmann,Paul-Martin Holterhus,Nadine Hornig

HORMONE RESEARCH IN PAEDIATRICS (2024): 64-64

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A Single-Cell Time-Lapse of Mouse Prenatal Development from Gastrula to Birth

Chengxiang Qiu,Beth K. Martin,Ian C. Welsh,Riza M. Daza, Truc-Mai Le,Xingfan Huang,Eva K. Nichols, Megan L. Taylor, Olivia Fulton,Diana R. O’Day, Anne Roshella Gomes, Saskia Ilcisin,Sanjay Srivatsan,Xinxian Deng,Christine M. Disteche,William Stafford Noble,Nobuhiko Hamazaki,Cecilia B. Moens,David Kimelman,Junyue Cao,Alexander F. Schier,Malte Spielmann,Stephen A. Murray,Cole Trapnell,Jay Shendure

NATURE（2024）

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Quality Assurance for Next-Generation Sequencing Diagnostics of Rare Neurological Diseases in the European Reference Network

Ales Maver,Katja Lohmann,Fran Borovecki,Nicola Wolstenholme,Rachel L. Taylor,Malte Spielmann,Tobias B. Haack, Matthias Gerberding,Borut Peterlin,Holm Graessner

European Journal of Human Genetics（2024）

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Single-cell RNA Phenotyping of a Mouse Model for Hypothyroidism Reveals a Pivotal Role of Thyroid Hormone Receptor Alpha for Hypothalamic Development

Varun Sreenivasan,Riccardo Dore,Julia Resch,Julia Maier,Carola Dietrich,Jana Henck,Saranya Balachandran,Jens Mittag,Malte Spielmann

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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