खोज परिणाम - Rocha, Maria Eugenia

  • प्रदर्शित 1 - 7 परिणाम 7
परिणाम को परिष्कृत करें
  1. 1
    Novel clinical and genetic insight into CXorf56-associated intellectual disability

    Novel clinical and genetic insight into CXorf56-associated intellectual disability द्वारा Rocha, Maria Eugenia, Silveira, Tainá Regina Damaceno, Sasaki, Erina, Sás, Daíse Moreno, Lourenço, Charles Marques, Kandaswamy, Krishna K., Beetz, Christian, Rolfs, Arndt, Bauer, Peter, Reardon, Willie, Bertoli-Avella, Aida M.

    प्रकाशित 2019
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  2. 2
    Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

    Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis द्वारा Arora, Veronica, Khan, Suliman, W. El-Hattab, Ayman, Dua Puri, Ratna, Rocha, Maria Eugenia, Merdzanic, Rijad, Paknia, Omid, Beetz, Christian, Rolfs, Arndt, Bertoli-Avella, Aida M., Bauer, Peter, Verma, Ishwar C.

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  3. 3
    Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

    Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center द्वारा Rus, Corina-Marcela, Weissensteiner, Thomas, Pereira, Catarina, Susnea, Iuliana, Danquah, Bright D., Morales Torres, Galina, Rocha, Maria Eugenia, Cozma, Claudia, Saravanakumar, Deepa, Mannepalli, Sumanth, Kandaswamy, Krishna K., Di Bucchianico, Sebastiano, Zimmermann, Ralf, Rolfs, Arndt, Bauer, Peter, Beetz, Christian

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  4. 4
    Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

    Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility द्वारा Cheema, Huma, Bertoli-Avella, Aida M., Skrahina, Volha, Anjum, Muhammad Nadeem, Waheed, Nadia, Saeed, Anjum, Beetz, Christian, Perez-Lopez, Jordi, Rocha, Maria Eugenia, Alawbathani, Salem, Pereira, Catarina, Hovakimyan, Marina, Patric, Irene Rosita Pia, Paknia, Omid, Ameziane, Najim, Cozma, Claudia, Bauer, Peter, Rolfs, Arndt

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  5. 5
    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort द्वारा Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Dan, Zawada, Michal, Kandaswamy, Krishna K., Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M., Alswaid, Abdulrahman Faiz, Eyaid, Wafaa, Al Mutairi, Fuad, Alfares, Ahmed, Albalwi, Mohammed A., Alfadhel, Majid, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt, Bauer, Peter

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  6. 6
    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders द्वारा Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  7. 7
    Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

    Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases द्वारा Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmüller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, María Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M.

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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