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1
Analysis of laboratory parameters before the occurrence of hepatic sinusoidal obstruction syndrome in children, adolescents, and young adults after hematopoietic stem cell transplantation
Analysis of laboratory parameters before the occurrence of hepatic sinusoidal obstruction syndrome in children, adolescents, and young adults after hematopoietic stem cell transplantation
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Analysis of laboratory parameters before the occurrence of hepatic sinusoidal obstruction syndrome in children, adolescents, and young adults after hematopoietic stem cell transplantation

Journal of cancer research and clinical oncology, 2025-01, Vol.150 (1) [Peer Reviewed Journal]

The Author(s) 2024 ;ISSN: 0171-5216 ;EISSN: 1432-1335 ;DOI: 10.1007/s00432-023-05561-w

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2
Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management
Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management
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Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management

Egyptian Journal of Medical Human Genetics, 2024-12, Vol.25 (1), p.40-10 [Peer Reviewed Journal]

The Author(s) 2024 ;COPYRIGHT 2024 Springer ;The Author(s) 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-024-00517-2

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3
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation
The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation
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The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1) [Peer Reviewed Journal]

The Author(s) 2024 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1420-682X ;EISSN: 1420-9071 ;DOI: 10.1007/s00018-024-05188-1

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4
BRCA mutations: screening for germ-line founder mutations among early-onset Syrian breast cancer patients
BRCA mutations: screening for germ-line founder mutations among early-onset Syrian breast cancer patients
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BRCA mutations: screening for germ-line founder mutations among early-onset Syrian breast cancer patients

Egyptian Journal of Medical Human Genetics, 2024-12, Vol.25 (1), p.18-7 [Peer Reviewed Journal]

The Author(s) 2024 ;COPYRIGHT 2024 Springer ;The Author(s) 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-024-00492-8

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5
Impact of an irreversible β-galactosylceramidase inhibitor on the lipid profile of zebrafish embryos
Impact of an irreversible β-galactosylceramidase inhibitor on the lipid profile of zebrafish embryos
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Impact of an irreversible β-galactosylceramidase inhibitor on the lipid profile of zebrafish embryos

Computational and structural biotechnology journal, 2024-12, Vol.23, p.1397-1407 [Peer Reviewed Journal]

2024 The Authors ;2024 The Authors. ;2024 The Authors 2024 ;ISSN: 2001-0370 ;EISSN: 2001-0370 ;DOI: 10.1016/j.csbj.2024.03.023 ;PMID: 38596316

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6
Trisomy 21-driven metabolite alterations are linked to cellular injuries in Down syndrome
Trisomy 21-driven metabolite alterations are linked to cellular injuries in Down syndrome
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Trisomy 21-driven metabolite alterations are linked to cellular injuries in Down syndrome

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1) [Peer Reviewed Journal]

The Author(s) 2024 ;ISSN: 1420-682X ;EISSN: 1420-9071 ;DOI: 10.1007/s00018-024-05127-0

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7
Bulbar-onset amyotrophic lateral sclerosis in a patient with genetically confirmed Huntington’s disease: a case study
Bulbar-onset amyotrophic lateral sclerosis in a patient with genetically confirmed Huntington’s disease: a case study
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Bulbar-onset amyotrophic lateral sclerosis in a patient with genetically confirmed Huntington’s disease: a case study

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2024-12, Vol.60 (1), p.23-4 [Peer Reviewed Journal]

The Author(s) 2024 ;The Author(s) 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1110-1083 ;EISSN: 1687-8329 ;DOI: 10.1186/s41983-024-00800-4

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8
Insights into the structural and functional analysis of impact of the missense mutations on [alpha]-synuclein: an in silico study
Insights into the structural and functional analysis of impact of the missense mutations on [alpha]-synuclein: an in silico study
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Insights into the structural and functional analysis of impact of the missense mutations on [alpha]-synuclein: an in silico study

The Egyptian journal of medical human genetics, 2024-12, Vol.25 (1) [Peer Reviewed Journal]

COPYRIGHT 2024 Springer ;ISSN: 1110-8630 ;DOI: 10.1186/s43042-024-00530-5

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9
Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient
Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient
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Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient

Molecular biology reports, 2024-12, Vol.51 (1) [Peer Reviewed Journal]

The Author(s) 2024 ;ISSN: 0301-4851 ;EISSN: 1573-4978 ;DOI: 10.1007/s11033-024-09214-0

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10
Prognosis and immunological characteristics of HDAC family in pan-cancer through integrative multi-omic analysis
Prognosis and immunological characteristics of HDAC family in pan-cancer through integrative multi-omic analysis
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Prognosis and immunological characteristics of HDAC family in pan-cancer through integrative multi-omic analysis

Egyptian Journal of Medical Human Genetics, 2024-12, Vol.25 (1), p.44-23 [Peer Reviewed Journal]

The Author(s) 2024 ;COPYRIGHT 2024 Springer ;The Author(s) 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-024-00518-1

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11
Genetic-driven biomarkers for liver fibrosis through bioinformatic approach
Genetic-driven biomarkers for liver fibrosis through bioinformatic approach
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Genetic-driven biomarkers for liver fibrosis through bioinformatic approach

Egyptian Journal of Medical Human Genetics, 2024-12, Vol.25 (1), p.58-9 [Peer Reviewed Journal]

The Author(s) 2024 ;COPYRIGHT 2024 Springer ;The Author(s) 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-024-00528-z

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12
Prenatal treatment with preimplantation factor improves early postnatal neurogenesis and cognitive impairments in a mouse model of Down syndrome
Prenatal treatment with preimplantation factor improves early postnatal neurogenesis and cognitive impairments in a mouse model of Down syndrome
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Prenatal treatment with preimplantation factor improves early postnatal neurogenesis and cognitive impairments in a mouse model of Down syndrome

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1) [Peer Reviewed Journal]

The Author(s) 2024 ;Attribution ;ISSN: 1420-682X ;EISSN: 1420-9071 ;DOI: 10.1007/s00018-024-05245-9 ;PMID: 38739166

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13
A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment
A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment
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A clinical evaluation of patients with known mutations (plasminogen and factor XII) with a focus on prophylactic treatment

The Journal of dermatological treatment, 2024-12, Vol.35 (1) [Peer Reviewed Journal]

ISSN: 0954-6634 ;EISSN: 1471-1753 ;DOI: 10.1080/09546634.2023.2290362

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14
Clinical features and genetic analysis of 15 Chinese children with dent disease
Clinical features and genetic analysis of 15 Chinese children with dent disease
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Clinical features and genetic analysis of 15 Chinese children with dent disease

Renal failure, 2024-12, Vol.46 (1), p.2349133-2349133 [Peer Reviewed Journal]

2024 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group 2024 The Author(s) ;ISSN: 0886-022X ;EISSN: 1525-6049 ;DOI: 10.1080/0886022X.2024.2349133 ;PMID: 38726999

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15
Bioethics in Genetics: between science and art
Bioethics in Genetics: between science and art
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Bioethics in Genetics: between science and art

Millenium (Viseu), 2024-09, Vol.2 (23) [Peer Reviewed Journal]

ISSN: 0873-3015 ;EISSN: 1647-662X ;DOI: 10.29352/mill0223.32085

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16
Novel AAV variants with improved tropism for human Schwann cells
Novel AAV variants with improved tropism for human Schwann cells
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Novel AAV variants with improved tropism for human Schwann cells

Molecular therapy. Methods & clinical development, 2024-06, Vol.32 (2), p.101234-101234, Article 101234 [Peer Reviewed Journal]

2024 The Authors ;2024 The Authors. ;ISSN: 2329-0501 ;EISSN: 2329-0501 ;DOI: 10.1016/j.omtm.2024.101234 ;PMID: 38558569

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17
CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency
CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency
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CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency

Molecular therapy. Nucleic acids, 2024-06, Vol.35 (2), p.102199-102199, Article 102199 [Peer Reviewed Journal]

2024 The Author(s) ;2024 The Author(s). ;2024 The Author(s) 2024 ;ISSN: 2162-2531 ;EISSN: 2162-2531 ;DOI: 10.1016/j.omtn.2024.102199 ;PMID: 38766525

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18
Identifying and Extracting Rare Diseases and Their Phenotypes with Large Language Models
Identifying and Extracting Rare Diseases and Their Phenotypes with Large Language Models
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Identifying and Extracting Rare Diseases and Their Phenotypes with Large Language Models

Journal of healthcare informatics research, 2024-06, Vol.8 (2), p.438-461

The Author(s) 2024 ;ISSN: 2509-4971 ;EISSN: 2509-498X ;DOI: 10.1007/s41666-023-00155-0

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19
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases
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Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases

Disease models & mechanisms, 2024-06, Vol.17 (6) [Peer Reviewed Journal]

2024. Published by The Company of Biologists Ltd. ;2024. Published by The Company of Biologists Ltd 2024 ;ISSN: 1754-8403 ;EISSN: 1754-8411 ;DOI: 10.1242/dmm.050546 ;PMID: 38436085

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20
Fibrous dysplasia of the head and neck in Southern Finland: a retrospective study on clinical characteristics, diagnostics, and treatment
Fibrous dysplasia of the head and neck in Southern Finland: a retrospective study on clinical characteristics, diagnostics, and treatment
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Fibrous dysplasia of the head and neck in Southern Finland: a retrospective study on clinical characteristics, diagnostics, and treatment

European archives of oto-rhino-laryngology, 2024-06, Vol.281 (6), p.3189-3195 [Peer Reviewed Journal]

The Author(s) 2024 ;ISSN: 0937-4477 ;EISSN: 1434-4726 ;DOI: 10.1007/s00405-024-08595-z

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