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  1. 6361
    Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes

    Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes by Lakshmi Rao Kandukuri, Venkata Padmalatha, Murthy Kanakavalli, Raseswari Turlapati, Mangalipally Swapna, Metuku Vidyadhari, Govindaraghavan Saranaya, Kattera Himaja, Mamata Deenadayal, Bipin Kumar Sethi, Prasun Deb, Nalini Gupta, Baidyanath Chakraborthy, Pratibha Nallari, Lalji Singh

    Published 2012-01-01
    “…Case Reports in Genetics…”
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  2. 6362
    Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

    Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism by Jonathan Lévy, Jean-Marie Jouannic, Julien Saada, Ferdinand Dhombres, Jean-Pierre Siffroi, Marie-France Portnoï

    Published 2013-01-01
    “…Case Reports in Genetics…”
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  3. 6363
    Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome

    Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome by L. Swan, G. Gole, V. Sabesan, J. Cardinal, D. Coman

    Published 2018-01-01
    “…Case Reports in Genetics…”
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  4. 6364
    PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication

    PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication by Angelika J. Dawson, Janice Cox, Karine Hovanes, Elizabeth Spriggs

    Published 2015-01-01
    “…Case Reports in Genetics…”
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  5. 6365
    A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

    A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy by M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel

    Published 2019-01-01
    “…Case Reports in Genetics…”
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  6. 6366
    First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism

    First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism by Theocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, Christina-Maria Trakatelli, Spyridon N. Karras, Eleni Manthou, Christina Kanaka-Gantenbein, Kalliopi Kotsa

    Published 2019-01-01
    “…Case Reports in Genetics…”
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  7. 6367
    Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

    Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability by R. Curtis Rogers, Bridgette Aufmuth, Stephanie Monesson

    Published 2011-01-01
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  8. 6368
    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…”
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  9. 6369
    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…”
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  10. 6370
    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…”
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  11. 6371
    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…”
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  12. 6372
    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
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  13. 6373
    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…”
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  14. 6374
    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…”
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  15. 6375
    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
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  16. 6376
    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
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  17. 6377
    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…”
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  18. 6378
    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
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  19. 6379
    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
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  20. 6380
    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
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