Suchergebnisse - "Krantz, Ian D"

PubPharm (292)

1

Defining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline

enthalten in: bioRxiv.org | 2024

von Cheng, K. | Seita, Y. | Whelan, E. | +12

2

Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula : A 12 Year Retrospective Review

enthalten in: The Journal of pediatrics | 2024

von Wild, K. | Conlin, L. | Blair, J. | +12

3

Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111

enthalten in: American journal of medical genetics. Part A | 2024

von Lo, E. | Blair, J. | Yamamoto, N. | +12

4

Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2024

von Lo, E. | Blair, J. | Yamamoto, N. | +12

5

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts

enthalten in: arXiv.org | 2023

von Wu, D. | Yang, J. | Liu, C. | +10

6

Comprehensive Gene Panel Testing for Hearing Loss in Children : Understanding Factors Influencing Diagnostic Yield

enthalten in: The Journal of pediatrics | 2023

von Yamamoto, N. | Balciuniene, J. | Hartman, T. | +24

7

CTCF/cohesin organize the ground state of chromatin-nuclear speckle association

enthalten in: bioRxiv.org | 2023

von Yu, R. | Roseman, S. | Siegenfeld, A. | +6

8

CTCF/cohesin organize the ground state of chromatin-nuclear speckle association

enthalten in: bioRxiv : the preprint server for biology | 2023

von Yu, R. | Roseman, S. | Siegenfeld, A. | +6

9

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses : Novel candidate genes, genotype-phenotype correlations and common mechanisms

enthalten in: American journal of medical genetics. Part A | 2023

von Kaur, M. | Blair, J. | Devkota, B. | +94

10

Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital

enthalten in: American journal of medical genetics. Part A | 2023

von Regan-Fendt, K. | Rippert, A. | Medne, L. | +9

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