Showing 1 - 20 results of 136 for search '"Case Reports in Genetics"', query time: 0.05s 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
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  2. 2
    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…”
    Get full text
    Article
    Save to List
    Saved in:
  3. 3
    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…”
    Get full text
    Article
    Save to List
    Saved in:
  4. 4
    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…”
    Get full text
    Article
    Save to List
    Saved in:
  5. 5
    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…”
    Get full text
    Article
    Save to List
    Saved in:
  6. 6
    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…”
    Get full text
    Article
    Save to List
    Saved in:
  7. 7
    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…”
    Get full text
    Article
    Save to List
    Saved in:
  8. 8
    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
    “…Case Reports in Genetics…”
    Get full text
    Article
    Save to List
    Saved in:
  9. 9
    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:
  10. 10
    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:
  11. 11
    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:
  12. 12
    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:
  13. 13
    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:
  14. 14
    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:
  15. 15
    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:
  16. 16
    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:
  17. 17
    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:
  18. 18
    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:
  19. 19
    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:
  20. 20
    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:

Search Tools: