Suchergebnisse - "Alkelai, Anna"

PubPharm (65)

1

The contribution of de novo coding mutations to meningomyelocele

enthalten in: bioRxiv.org | 2024

von Ha, Y. | Tang, I. | Nisal, A. | +54

2

Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance

enthalten in: Genes | 2024

von Koutsofti, C. | Ioannides, M. | Polydorou, C. | +14

3

The best of both worlds : Blending cutting-edge research with clinical processes for a productive exome clinic

enthalten in: Clinical genetics | 2024

von Sullivan, J. | Spillmann, R. | Schoch, K. | +8

4

A large meta-analysis identifies genes associated with anterior uveitis

enthalten in: Nature communications | 2023

von Gelfman, S. | Moscati, A. | Huergo, S. | +120

5

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

enthalten in: Human molecular genetics | 2023

von Liu, Z. | Xin, B. | Smith, I. | +51

6

Investigation into the genetics of fetal congenital lymphatic anomalies

enthalten in: Prenatal diagnosis | 2023

von Rogerson, D. | Alkelai, A. | Giordano, J. | +8

7

Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening

enthalten in: Genes | 2023

von Avnat, E. | Shapira, G. | Shoval, S. | +8

8

A concurrent dual analysis of genomic data augments diagnoses : Experiences of 2 clinical sites in the Undiagnosed Diseases Network

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

von Spillmann, R. | Tan, Q. | Reuter, C. | +113

9

Genetic insights into childhood-onset schizophrenia : The yield of clinical exome sequencing

enthalten in: Schizophrenia research | 2023

von Alkelai, A. | Greenbaum, L. | Shohat, S. | +12

10

Risk Variants in the Exomes of Children With Critical Illness

enthalten in: JAMA network open | 2022

von Motelow, J. | Lippa, N. | Hostyk, J. | +9

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