Miriam Stampfer

Hoppe Seyler Str. 3
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 10 publications

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.

Journal: Journal of medical genetics

Published: May 29, 2022

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

Journal: Prenatal diagnosis

Published: January 11, 2022

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations.

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations.

Journal: Journal of clinical medicine

Published: December 01, 2021

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).

Journal: Orphanet journal of rare diseases

Published: September 27, 2021

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

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

Journal: Neuropediatrics

Published: October 23, 2019

Consensus clinical management guidelines for Niemann-Pick disease type C.

Consensus clinical management guidelines for Niemann-Pick disease type C.

Journal: Orphanet journal of rare diseases

Published: November 24, 2017

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

Journal: Journal of medical genetics

Published: June 09, 2016

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening.

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening.

Journal: Journal of neurology

Published: June 19, 2015

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Journal: Orphanet journal of rare diseases

Published: October 13, 2012

Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis.

Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis.

Journal: Pediatrics and neonatology

Published: June 25, 2012

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Last Updated: 09/26/2026