অনুসন্ধান ফলাফলগুলি - Netchine, Irène
- প্রদর্শন 1 - 20 ফলাফল এর 36
- পরবর্তী পৃষ্ঠায় যান
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Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit অনুযায়ী Donadille, Bruno, Houang, Muriel, Netchine, Irène, Siffroi, Jean-Pierre, Christin-Maitre, Sophie
প্রকাশিত 2018পাঠ্য -
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Dysgenesis of the Internal Carotid ArteryAssociated with Transsphenoidal Encephalocele:A Neural Crest Syndrome? অনুযায়ী Blustajn, Jerry, Netchine, Irène, Frédy, Daniel, Bakouche, Pierre, Piekarski, Jean Daniel, Meder, Jean François
প্রকাশিত 1999পাঠ্য -
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Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion অনুযায়ী Giabicani, Eloïse, Chantot-Bastaraud, Sandra, Bonnard, Adeline, Rachid, Myriam, Whalen, Sandra, Netchine, Irène, Brioude, Frédéric
প্রকাশিত 2019পাঠ্য -
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A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome অনুযায়ী Azzi, Salah, Salem, Jennifer, Thibaud, Nathalie, Chantot-Bastaraud, Sandra, Lieber, Eli, Netchine, Irène, Harbison, Madeleine D
প্রকাশিত 2015পাঠ্য -
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Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants অনুযায়ী Pham, Aurélie, Sobrier, Marie-Laure, Giabicani, Eloïse, Le Jules Fernandes, Marilyne, Mitanchez, Delphine, Brioude, Fréderic, Netchine, Irène
প্রকাশিত 2021পাঠ্য -
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Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot অনুযায়ী Houang, Muriel, Nguyen-Khoa, Thao, Eguether, Thibaut, Ribault, Bettina, Brabant, Séverine, Polak, Michel, Netchine, Irène, Lamazière, Antonin
প্রকাশিত 2022পাঠ্য -
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Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network অনুযায়ী Eggermann, Thomas, Davies, Justin H., Tauber, Maithé, van den Akker, Erica, Hokken-Koelega, Anita, Johansson, Gudmundur, Netchine, Irène
প্রকাশিত 2021পাঠ্য -
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Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction অনুযায়ী Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas
প্রকাশিত 2017পাঠ্য -
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Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth অনুযায়ী Pham, Aurelie, Mitanchez, Delphine, Forhan, Anne, Perin, Laurence, Le Bouc, Yves, Brioude, Frederic, Sobrier, Marie-Laure, Heude, Barbara, Netchine, Irene
প্রকাশিত 2022পাঠ্য -
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Degree of methylation of ZAC1 (PLAGL1) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort অনুযায়ী Azzi, Salah, Sas, Theo CJ, Koudou, Yves, Le Bouc, Yves, Souberbielle, Jean-Claude, Dargent-Molina, Patricia, Netchine, Irène, Charles, Marie-Aline
প্রকাশিত 2014পাঠ্য -
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Dental pulp stem cells as a promising model to study imprinting diseases অনুযায়ী Giabicani, Eloïse, Pham, Aurélie, Sélénou, Céline, Sobrier, Marie-Laure, Andrique, Caroline, Lesieur, Julie, Linglart, Agnès, Poliard, Anne, Chaussain, Catherine, Netchine, Irène
প্রকাশিত 2022পাঠ্য -
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Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care অনুযায়ী Eggermann, Thomas, Netchine, Irène, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R
প্রকাশিত 2015পাঠ্য -
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Clinical utility gene card for: Beckwith–Wiedemann Syndrome অনুযায়ী Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R, Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I Karen, Weksberg, Rosanna
প্রকাশিত 2014পাঠ্য -
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Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development অনুযায়ী Netchine, Irène, Azzi, Salah, Houang, Muriel, Seurin, Danielle, Perin, Laurence, Ricort, Jean-Marc, Daubas, Claudine, Legay, Christine, Mester, Jan, Herich, Robert, Godeau, François, Le Bouc, Yves
প্রকাশিত 2009পাঠ্য -
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Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders অনুযায়ী Abi Habib, Walid, Brioude, Frédéric, Azzi, Salah, Rossignol, Sylvie, Linglart, Agnès, Sobrier, Marie-Laure, Giabicani, Éloïse, Steunou, Virginie, Harbison, Madeleine D., Le Bouc, Yves, Netchine, Irène
প্রকাশিত 2019পাঠ্য -
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Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4 অনুযায়ী Machinis, Kalotina, Pantel, Jacques, Netchine, Irène, Léger, Juliane, Camand, Olivier J. A., Sobrier, Marie-Laure, Moal, Florence Dastot-Le, Duquesnoy, Philippe, Abitbol, Marc, Czernichow, Paul, Amselem, Serge
প্রকাশিত 2001পাঠ্য -
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Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci অনুযায়ী Eggermann, Thomas, de Nanclares, Guiomar Perez, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène
প্রকাশিত 2016পাঠ্য