Showing 21 - 40 results of 141 for search '"Case Reports in Genetics"', query time: 0.04s Refine Results
  1. 21
    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
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  2. 22
    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
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  3. 23
    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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  4. 24
    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
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  5. 25
    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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  6. 26
    Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

    Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function by Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J. Falk, Hakon Hakonarson

    Published 2016-01-01
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  7. 27
    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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  8. 28
    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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  9. 29
    Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report

    Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report by Joana Rita Chora, Helena Simões-Teixeira, Tiago Daniel Matos, Jorge Humberto Martins, Marisa Alves, Raquel Ferreira, Luís Silva, Carlos Ribeiro, Graça Fialho, Helena Caria

    Published 2012-01-01
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  10. 30
    A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency

    A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency by N. H. Birkebæk, J. S. Sørensen, J. Vikre-Jørgensen, P. K. A. Jensen, O. Pedersen, T. Hansen

    Published 2011-01-01
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  11. 31
    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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  12. 32
    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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  13. 33
    Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation

    Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation by Rose H. Mende, David P. Drake, Raimos M. Olomi, Ben C. J. Hamel

    Published 2012-01-01
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  14. 34
    Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

    Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature by Trent Burgess, Lilian Downie, Mark D. Pertile, David Francis, Melissa Glass, Sara Nouri, Rosalynn Pszczola

    Published 2014-01-01
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  15. 35
    Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1

    Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1 by Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, Ryuji Muta, Taichi Yano, Hiroshi Sakaida, Sawako Masuda, Koki Ueda, Guofei Feng, Shimpei Gotoh, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Mizuho Nagao, Masaki Tanabe, Kazuhiko Takeuchi

    Published 2024-01-01
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  16. 36
    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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  17. 37
    Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

    Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm by Kristi K. Fitzgerald, Abdul Majeed Bhat, Katrina Conard, James Hyland, Christian Pizarro

    Published 2014-01-01
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  18. 38
    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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  19. 39
    De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome

    De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome by Rafat Mosalli, Alfia Fatma, Mohammed A. Almatrafi, Mayada Mazroua, Bosco Paes

    Published 2022-01-01
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  20. 40
    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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