Skip to contents McKusick, Victor A. [Author] ; Francomano, Clair A. [Other]; Antonarakis, Stylianos E. [Other] Mendelian inheritance in man : catalogs of autosomal dominant, autosomal recessive, and x-linked phenotypes Books Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Baltimore, Md. [u.a.]: Johns Hopkins Univ. Pr., 19XX- Vogel, Friedrich [Other]; Motulsky, Arno G. [Other]; Speicher, Michael [Editor]; Antonarakis, Stylianos E. [Other] Vogel and Motulsky's human genetics : problems and approaches ; with 76 tables - [4., completely rev. ed.] Books View online Schließen Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Berlin; Heidelberg [u.a.]: Springer, 2010 Rehman, Atteeq U. [Author]; Najafi, Maryam [Author]; Kambouris, Marios [Author]; Al-Gazali, Lihadh [Author]; Makrythanasis, Periklis [Author]; Rad, Abolfazl [Author]; Maroofian, Reza [Author]; Rajab, Anna [Author]; Stark, Zornitza [Author]; Hunter, Jill V. [Author]; Bakey, Zeineb [Author]; Tokita, Mari J. [Author]; He, Weimin [Author]; Vetrini, Francesco [Author]; Petersen, Andrea [Author]; Santoni, Federico A. [Author]; Hamamy, Hanan [Author]; Wu, Kaman [Author]; Jasmi, Fatma Al [Author]; Helmstädter, Martin [Author]; Arnold, Sebastian Johannes [Author]; Xia, Fan [Author]; Richmond, Christopher [Author]; Liu, Pengfei [Author]; [...] Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function Books View online Schließen > Access ... to E-book (Volltext ; freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. New York, NY [u.a.]: Wiley, 2019 Published in: Human mutation ; 40, 3 (2019), 267-280 Antonarakis, Stylianos E. Short arms of human acrocentric chromosomes and the completion of the human genome sequence Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Cold Spring Harbor Laboratory, 2022 Published in: Genome Research, 32 (2022) 4, Seite 599-607 Antonarakis, Stylianos E. History of the methodology of disease gene identification Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2021 Published in: American Journal of Medical Genetics Part A, 185 (2021) 11, Seite 3266-3275 Antonarakis, Stylianos E. 2019 William Allan Award Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2020 Published in: The American Journal of Human Genetics, 106 (2020) 3, Seite 289-294 Antonarakis, Stylianos E. Carrier screening for recessive disorders Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2019 Published in: Nature Reviews Genetics, 20 (2019) 9, Seite 549-561 Antonarakis, Stylianos E. Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2020 Published in: European Journal of Human Genetics, 28 (2020) 11, Seite 1479-1480 Antonarakis, Stylianos E. Down syndrome and the complexity of genome dosage imbalance Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2017 Published in: Nature Reviews Genetics, 18 (2017) 3, Seite 147-163 Antonarakis, Stylianos E. Genomic databases : A WHO affair Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Association for the Advancement of Science, 2017 Published in: Science, 356 (2017) 6340, Seite 812-813 Antonarakis, Stylianos E. Genomic databases: A WHO affair Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Association for the Advancement of Science (AAAS), 2017 Published in: Science, 356 (2017) 6340, Seite 812-813 Antonarakis, Stylianos E. MOOCs: la fin des facultés de médecine conventionnelles? Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Médecine et Hygiène, 2014 Published in: Revue Médicale Suisse, 10 (2014) 423, Seite 719-720 Antonarakis, Stylianos E. William Allan Award Introduction: Haig H. Kazazian, Jr Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2009 Published in: The American Journal of Human Genetics, 84 (2009) 2, Seite 103-104 Antonarakis, Stylianos E BACking up the promises Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2001 Published in: Nature Genetics, 27 (2001) 3, Seite 230-232 Antonarakis, Stylianos E. The search for allelic variants that cause monogenic disorders or predispose to common, complex polygenic phenotypes Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Informa UK Limited, 2001 Published in: Dialogues in Clinical Neuroscience, 3 (2001) 1, Seite 7-15 Antonarakis, Stylianos E. 10 Years ofGenomics,Chromosome 21, and Down Syndrome Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1998 Published in: Genomics, 51 (1998) 1, Seite 1-16 Antonarakis, Stylianos E MOLECULAR DIAGNOSIS OF HAEMOPHILIA A AND OTHER COAGULATION DISORDERS 35 Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 1997 Published in: Pediatric Research, 41 (1997) 5, Seite 744-744 Antonarakis, Stylianos E. Recommendations for a nomenclature system for human gene mutations Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1998 Published in: Human Mutation, 11 (1998) 1, Seite 1-3 Antonarakis, Stylianos E. Recommendations for a nomenclature system for human gene mutations Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hindawi Limited, 1998 Published in: Human Mutation, 11 (1998) 1, Seite 1-3 Antonarakis, Stylianos E. Mapping by Sequence Homology Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 1996 Published in: European Journal of Human Genetics, 4 (1996) 5, Seite 247-249
McKusick, Victor A. [Author] ; Francomano, Clair A. [Other]; Antonarakis, Stylianos E. [Other] Mendelian inheritance in man : catalogs of autosomal dominant, autosomal recessive, and x-linked phenotypes Books Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Baltimore, Md. [u.a.]: Johns Hopkins Univ. Pr., 19XX-
Vogel, Friedrich [Other]; Motulsky, Arno G. [Other]; Speicher, Michael [Editor]; Antonarakis, Stylianos E. [Other] Vogel and Motulsky's human genetics : problems and approaches ; with 76 tables - [4., completely rev. ed.] Books View online Schließen Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Berlin; Heidelberg [u.a.]: Springer, 2010
Rehman, Atteeq U. [Author]; Najafi, Maryam [Author]; Kambouris, Marios [Author]; Al-Gazali, Lihadh [Author]; Makrythanasis, Periklis [Author]; Rad, Abolfazl [Author]; Maroofian, Reza [Author]; Rajab, Anna [Author]; Stark, Zornitza [Author]; Hunter, Jill V. [Author]; Bakey, Zeineb [Author]; Tokita, Mari J. [Author]; He, Weimin [Author]; Vetrini, Francesco [Author]; Petersen, Andrea [Author]; Santoni, Federico A. [Author]; Hamamy, Hanan [Author]; Wu, Kaman [Author]; Jasmi, Fatma Al [Author]; Helmstädter, Martin [Author]; Arnold, Sebastian Johannes [Author]; Xia, Fan [Author]; Richmond, Christopher [Author]; Liu, Pengfei [Author]; [...] Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function Books View online Schließen > Access ... to E-book (Volltext ; freely accessible) Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. New York, NY [u.a.]: Wiley, 2019 Published in: Human mutation ; 40, 3 (2019), 267-280
Antonarakis, Stylianos E. Short arms of human acrocentric chromosomes and the completion of the human genome sequence Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Cold Spring Harbor Laboratory, 2022 Published in: Genome Research, 32 (2022) 4, Seite 599-607
Antonarakis, Stylianos E. History of the methodology of disease gene identification Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2021 Published in: American Journal of Medical Genetics Part A, 185 (2021) 11, Seite 3266-3275
Antonarakis, Stylianos E. 2019 William Allan Award Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2020 Published in: The American Journal of Human Genetics, 106 (2020) 3, Seite 289-294
Antonarakis, Stylianos E. Carrier screening for recessive disorders Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2019 Published in: Nature Reviews Genetics, 20 (2019) 9, Seite 549-561
Antonarakis, Stylianos E. Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2020 Published in: European Journal of Human Genetics, 28 (2020) 11, Seite 1479-1480
Antonarakis, Stylianos E. Down syndrome and the complexity of genome dosage imbalance Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2017 Published in: Nature Reviews Genetics, 18 (2017) 3, Seite 147-163
Antonarakis, Stylianos E. Genomic databases : A WHO affair Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Association for the Advancement of Science, 2017 Published in: Science, 356 (2017) 6340, Seite 812-813
Antonarakis, Stylianos E. Genomic databases: A WHO affair Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Association for the Advancement of Science (AAAS), 2017 Published in: Science, 356 (2017) 6340, Seite 812-813
Antonarakis, Stylianos E. MOOCs: la fin des facultés de médecine conventionnelles? Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Médecine et Hygiène, 2014 Published in: Revue Médicale Suisse, 10 (2014) 423, Seite 719-720
Antonarakis, Stylianos E. William Allan Award Introduction: Haig H. Kazazian, Jr Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2009 Published in: The American Journal of Human Genetics, 84 (2009) 2, Seite 103-104
Antonarakis, Stylianos E BACking up the promises Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2001 Published in: Nature Genetics, 27 (2001) 3, Seite 230-232
Antonarakis, Stylianos E. The search for allelic variants that cause monogenic disorders or predispose to common, complex polygenic phenotypes Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Informa UK Limited, 2001 Published in: Dialogues in Clinical Neuroscience, 3 (2001) 1, Seite 7-15
Antonarakis, Stylianos E. 10 Years ofGenomics,Chromosome 21, and Down Syndrome Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1998 Published in: Genomics, 51 (1998) 1, Seite 1-16
Antonarakis, Stylianos E MOLECULAR DIAGNOSIS OF HAEMOPHILIA A AND OTHER COAGULATION DISORDERS 35 Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 1997 Published in: Pediatric Research, 41 (1997) 5, Seite 744-744
Antonarakis, Stylianos E. Recommendations for a nomenclature system for human gene mutations Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1998 Published in: Human Mutation, 11 (1998) 1, Seite 1-3
Antonarakis, Stylianos E. Recommendations for a nomenclature system for human gene mutations Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hindawi Limited, 1998 Published in: Human Mutation, 11 (1998) 1, Seite 1-3
Antonarakis, Stylianos E. Mapping by Sequence Homology Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 1996 Published in: European Journal of Human Genetics, 4 (1996) 5, Seite 247-249
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