Showing 1 - 20 results of 60 for search '"Case Reports in Genetics"', query time: 0.07s Refine Results
  1. 1
    Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes

    Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes by Kosei Hasegawa, Hiroyuki Tanaka, Natsuko Futagawa, Hiroyuki Miyahara, Hirokazu Tsukahara

    Published 2022-01-01
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  2. 2
    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
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  3. 3
    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
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  4. 4
    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
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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    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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  9. 9
    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
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  10. 10
    Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

    Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis by Kimia Najafi, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad, Mohamad Hassan Kariminejad

    Published 2017-01-01
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  11. 11
    Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome

    Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome by Marina Araújo Fonzar Hernandes, Terezinha de Jesus Marques-Salles, Hasmik Mkrtchyan, Eliane Maria Soares-Ventura, Edinalva Pereira Leite, Maria Tereza Cartaxo Muniz, Maria Teresa Marquim Nogueira Cornélio, Thomas Liehr, Neide Santos, Maria Luiza Macedo Silva

    Published 2012-01-01
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  12. 12
    Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion

    Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion by Signe Faurschou, Dorte L. Lildballe, Lisa L. Maroun, Morten Helvind, Maria Rasmussen

    Published 2021-01-01
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  13. 13
    A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

    A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker by Roberto L. P. Mazzaschi, Juliet Taylor, Stephen P. Robertson, Donald R. Love, Alice M. George

    Published 2014-01-01
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  14. 14
    Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran

    Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran by Hossein Jalali, Mahan Mahdavi, Mohammad Eslamijouybari, Mohammad Reza Mahdavi

    Published 2023-01-01
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  15. 15
    Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India

    Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India by Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

    Published 2024-01-01
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  16. 16
    A Newborn with Panhypopituitarism and Seizures

    A Newborn with Panhypopituitarism and Seizures by Trupti Kale, Rachit Patil, Ramesh Pandit

    Published 2017-01-01
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  17. 17
    Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

    Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa by A. M. Ali, R. M. Mbwasi, G. Kinabo, E.-J. Kamsteeg, B. C. Hamel, M. C. J. Dekker

    Published 2017-01-01
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  18. 18
    Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

    Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20 by Thiago Corrêa, Amanda Cristina Venâncio, Marcial Francis Galera, Mariluce Riegel

    Published 2020-01-01
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  19. 19
    Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes

    Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes by Mark Johnson, Craig Richard, Renee Bogdan, Robert Kidd

    Published 2014-01-01
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  20. 20
    Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

    Pitfalls in Genetic Testing for Consanguineous Pediatric Populations by Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad

    Published 2022-01-01
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