Suggested Topics within your search.
Showing 2,501 - 2,520 results of 11,391 for search '"genetics"', query time: 0.10s Refine Results
  1. 2501
    Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features

    Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features by Jacquelyn D. Riley, Catherine M. Stefaniuk, Francine Erenberg, Angelika L. Erwin, Lauren Palange, Caroline Astbury

    Published 2019-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  2. 2502
    A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature

    A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature by Deniz Gören Şahin, Beyhan Durak, Eren Gündüz, Sevilhan Artan, Olga Meltem Akay

    Published 2013-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  3. 2503
    A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation

    A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation by Ana Isabel Sánchez, Jorge Armando Rojas

    Published 2017-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  4. 2504
    Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

    Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts by D. Wong, S. M. Johnson, D. Young, L. Iwamoto, S. Sood, T. P. Slavin

    Published 2013-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  5. 2505
    A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

    A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features by Adrian Mc Cormack, Juliet Taylor, Leah Te Weehi, Donald R. Love, Alice M. George

    Published 2014-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  6. 2506
    Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

    Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

    Published 2015-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  7. 2507
    Identification of G-quadruplex-forming Sequences in Nucleocapsid Gene of SARS-CoV-2 Variants of Concern: An In Silico Analysis

    Identification of G-quadruplex-forming Sequences in Nucleocapsid Gene of SARS-CoV-2 Variants of Concern: An In Silico Analysis by Saeedeh Ghazaey Zidanloo

    Published 2024-02-01
    “…Journal of Genetic Resources…”
    Get full text
    Article
    Save to List
    Saved in:
  8. 2508
    Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder

    Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder by Marina Laplana, José Luis Royo, Anton Aluja, Ricard López, Damiàn Heine-Sunyer, Joan Fibla

    Published 2014-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  9. 2509
    Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature

    Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature by Amal Al-Naimi, Haneen Toma, Sara G. Hamad, Tawfeg Ben Omran

    Published 2022-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  10. 2510
    Genomic selection strategies to overcome genotype by environment interactions in biosecurity-based aquaculture breeding programs

    Genomic selection strategies to overcome genotype by environment interactions in biosecurity-based aquaculture breeding programs by Ziyi Kang, Jie Kong, Qi Li, Juan Sui, Ping Dai, Kun Luo, Xianhong Meng, Baolong Chen, Jiawang Cao, Jian Tan, Qiang Fu, Qun Xing, Sheng Luan

    Published 2025-01-01
    “…Genetics Selection Evolution…”
    Get full text
    Article
    Save to List
    Saved in:
  11. 2511
    Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T

    Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T by Holli M. Drendel, Jason E. Pike, Katherine Schumacher, Karen Ouyang, Jing Wang, Mary Stuy, Stephen Dlouhy, Shaochun Bai

    Published 2015-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  12. 2512
    The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation

    The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation by Krishna Gundabolu, Bhavana J. Dave, Carmelita J. Alvares, Jeffrey J. Cannatella, Vijaya R. Bhatt, Lori J. Maness, Zaid S. Al-Kadhimi, Rana K. Zabad, Allison M. Cushman-Vokoun

    Published 2022-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  13. 2513
    Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation

    Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation by Misty Ruppert, John Pyun, K. V. Chalam, David Sierpina

    Published 2020-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  14. 2514
    Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

    Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome by Guillaume Jedraszak, Aline Receveur, Joris Andrieux, Michèle Mathieu-Dramard, Henri Copin, Gilles Morin

    Published 2015-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  15. 2515
    Synchronous Pulmonary Squamous Cell Carcinoma and Mantle Cell Lymphoma of the Lymph Node

    Synchronous Pulmonary Squamous Cell Carcinoma and Mantle Cell Lymphoma of the Lymph Node by Yu Sun, Yun-Fei Shi, Li-Xin Zhou, Ke-Neng Chen, Xiang-Hong Li

    Published 2011-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  16. 2516
    Isolation and Identification of Lipase-producing Actinobacteria from the Lut Desert of Iran

    Isolation and Identification of Lipase-producing Actinobacteria from the Lut Desert of Iran by Samira Abedi-Dolatabadi, Moj Khaleghi, Sedigheh Ghasemzadeh, Azadeh Lohrasbi-Nejad, Arastoo Badoei Delfard

    Published 2024-09-01
    “…Journal of Genetic Resources…”
    Get full text
    Article
    Save to List
    Saved in:
  17. 2517
    WWTR1-AS1 LncRNA as a Novel Potential Diagnostic and Prognostic Biomarker in Breast Cancer

    WWTR1-AS1 LncRNA as a Novel Potential Diagnostic and Prognostic Biomarker in Breast Cancer by Mohadese Safabakhsh, Sohrab Boozarpour, Kamran Ghaedi, Mina Lashkarboloki, Shaaban Ghalandarayeshi

    Published 2024-02-01
    “…Journal of Genetic Resources…”
    Get full text
    Article
    Save to List
    Saved in:
  18. 2518
    3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

    3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases by Ana Belén de la Hoz, Hiart Maortua, Ainhoa García-Rives, María Jesús Martínez-González, Maitane Ezquerra, María-Isabel Tejada

    Published 2015-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  19. 2519
    What Drives Embryo Development? Chromosomal Normality or Mitochondria?

    What Drives Embryo Development? Chromosomal Normality or Mitochondria? by A. Bayram, I. Elkhatib, A. Arnanz, A. Linan, F. Ruiz, B. Lawrenz, H. M. Fatemi

    Published 2017-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  20. 2520
    Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia

    Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia by Osama Obaid, Reem Batawi, Heba Alqurashi, Thana Ewis, Ahmad A. Obaid

    Published 2024-01-01
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:

Search Tools: