Suchergebnisse - "Wischmeijer, Anita"

PubPharm (48)

1

Olfactory bulb anomalies in KBG syndrome mouse model and patients

enthalten in: BMC medicine | 2024

von Goodkey, K. | Wischmeijer, A. | Perrin, L. | +9

2

Olfactory bulb anomalies in KBG syndrome mouse model and patients

enthalten in: BMC medicine | 2024

von Goodkey, K. | Wischmeijer, A. | Perrin, L. | +9

3

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

enthalten in: Genes | 2023

von Ambrosetti, I. | Bernardini, L. | Pollazzon, M. | +14

4

Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene

enthalten in: American journal of medical genetics. Part A | 2020

von Mariucci, E. | Spinardi, L. | Stagni, S. | +10

5

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

enthalten in: Frontiers in genetics | 2020

von Mantovani, V. | Bin, S. | Graziano, C. | +18

6

A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism

enthalten in: FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 2019

von Diquigiovanni, C. | Bergamini, C. | Diaz, R. | +15

7

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

enthalten in: Genes | 2019

von Camerota, L. | Ritelli, M. | Wischmeijer, A. | +10

8

A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism

enthalten in: The FASEB Journal | 2019

von Diquigiovanni, C. | Bergamini, C. | Diaz, R. | +15

9

Correction : Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

enthalten in: PLoS genetics | 2018

von Rainger, J. | van Beusekom, E. | Ramsay, J. | +33

ErratumFor: PLoS Genet. 2011 Jul;7(7):e1002114. - PMID 21750680

10

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature

enthalten in: Ophthalmic genetics | 2017

von Graziano, C. | Gusson, E. | Severi, G. | +5

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