Suchergebnisse - "Amarillo, Ina"

PubPharm (31)

1

Clinical whole-genome sequencing and FISH identify two different fusion partners for NUP98 in a patient with acute myeloid leukemia : A case report

enthalten in: Cancer genetics | 2024

von Mojarad, B. | Crees, Z. | Schroeder, M. | +10

2

Words matter : The language of difference in human genetics

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Cho, M. | Duque Lasio, M. | Amarillo, I. | +3

3

Confirmation of Xp22.11 Duplication as a Germline Susceptibility Alteration in a Wilms Tumor Arising in Horseshoe Kidney

enthalten in: Fetal and pediatric pathology | 2022

von Zhou, H. | Amarillo, I. | Snyder, S. | +7

4

Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias

enthalten in: International journal of molecular sciences | 2022

von Scott, C. | Amarillo, I.

5

Clinical whole-genome sequencing identifies NSD3 as the correct fusion partner of NUP98 in a patient with acute myeloid leukemia and t(8;11)(p11.2;p15): a case report

enthalten in: ResearchSquare.com | 2022

von Mojarad, B. | Crees, Z. | Schroeder, M. | +9

6

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder : Clinical, cytogenetic, and molecular characterization

enthalten in: American journal of medical genetics. Part A | 2021

von Kopp, N. | Amarillo, I. | Martinez-Agosto, J. | +1

7

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype

enthalten in: Bone | 2021

von Shepherdson, J. | Zheng, H. | Amarillo, I. | +2

8

Creating Affirmative and Inclusive Practices When Providing Genetic and Genomic Diagnostic and Research Services to Gender-Expansive and Transgender Patients

enthalten in: The journal of applied laboratory medicine | 2021

von Theisen, J. | Amarillo, I.

9

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder : Clinical, cytogenetic, and molecular characterization

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2021

von Kopp, N. | Amarillo, I. | Martinez‐Agosto, J. | +1

10

Rare and de novo duplications containing SHOX in clubfoot

enthalten in: Journal of medical genetics | 2020

von Sadler, B. | Haller, G. | Antunes, L. | +5