Search Results - "genetic counseling"

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  1. 401
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    Bilateral ovarian fibromas as the sole manifestation of Gorlin syndrome in a 22-year-old woman: a case report and literature review by Menghan Zhu, Jun Li, Jie Duan, Jing Yang, Weiyong Gu, Wei Jiang

    Published 2023
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  2. 402
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    Consanguinity pattern and heritability of Vitiligo in Arar, Saudi Arabia by Dhaifallah A Alenizi

    Published 2014
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  3. 403
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    Você conhece esta síndrome? Do you know this syndrome? by Francisco Paschoal, Orlando Torres, Sebastián Córdova, Andrea Cassettari, Maria Leonor Enei

    Published 2011
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  4. 404
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    LARS2-Perrault syndrome: a new case report and literature review by Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, Hélène Cao-van, Nils Guinand, Ariane Paoloni-Giacobino

    Published 2020
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  5. 405
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    Cystic Fibrosis in Egyptian Children: Achievements and Future Directions by Mona M. El Falaki, Mona M. El Attar, Nossa El Basha, Nihal El Refai, Walaa Shahin, Hanan Mohsen, Sara Ali, Amr M. Mostafa, Dina H. Hamed

    Published 2021
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  6. 406
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    Genetics of male infertility - Present and future: A narrative review by Digumarthi V S Sudhakar, Rupin Shah, Rahul K Gajbhiye

    Published 2021
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  7. 407
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    Testicular Feminization or Androgen Insensitivity Syndrome (AIS) in Iran: a Retrospective Analysis of 30-Year Data by Dariush. D FARHUD, Marjan ZARIF YEGANEH, Hosein SADIGHI, Shahram ZANDVAKILI

    Published 2016
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  8. 408
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    A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report by Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

    Published 2018
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  9. 409
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    Familial deletion 18p syndrome: case report by Lemyre Emmanuelle, Lemieux Nicole, Maranda Bruno

    Published 2006
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  10. 410
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    Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected by Jinzhi Gao, Ling Chen

    Published 2020
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  11. 411
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    Cystic Kidney Diseases From the Adult Nephrologist's Point of View by Roman-Ulrich Müller, Thomas Benzing

    Published 2018
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  12. 412
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    The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly by Hong-Lei Duan, Xiang-Yu Zhu, Yu-Jie Zhu, Xing Wu, Guang-Feng Zhao, Wan-Jun Wang, Jie Li

    Published 2019
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  13. 413
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    A case report of Omenn syndrome in siblings by Agnieszka Berendt, Monika Wójtowicz-Marzec, Monika Dobrowolska, Anna Kwaśniewska

    Published 2019
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  14. 414
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    Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations by Magda Carneiro-Sampaio, Adriana Almeida de Jesus, Silvia Yumi Bando, Carlos Alberto Moreira-Filho

    Published 2022
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  15. 415
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    Newborn Screening Practices for Beta-Thalassemia in the United States by Michael A. Bender, Mary Hulihan, Mary Christine Dorley, Maria del Pilar Aguinaga, Jelili Ojodu, Careema Yusuf

    Published 2021
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  16. 416
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    Genetic Causes of Mental Retardation in Bushehr Province by Elaheh Papari, Akram Farhadi, Ma'soumeh Hosseini, Seyyedeh Sedigheh A'bedini, Marzieh Mohseni, Sousan Bani-Hashemi, Sanaz Arjangi, Farkhndeh Behjati, Kimia Kahrizi, Hossein Najm-Abadi

    Published 2013
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  17. 417
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    A patient with non-mosaic 47, XXY karyotype fathering a normal healthy infant using intracytoplasmic sperm injection (ICSI) - a case report by H. Ye, S. Xue1, Y. Kuang, L. Sun

    Published 2020
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  18. 418
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    Congenital hyperinsulinism: A case report and challenges in management by Neha Goel, Shobhna Gupta, Rajni Sharma, Sugandha Arya

    Published 2021
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  19. 419
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    Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial p... by Chih-Ping Chen, Shin-Wen Chen, Jain-Pei Huang, Schu-Rern Chern, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wayseen Wang

    Published 2022
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  20. 420
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    Hereditary palmoplantar keratoderma: A practical approach to the diagnosis by Tanvi Dev, Vikram K Mahajan, Gomathy Sethuraman

    Published 2019
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