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- [41] 22Q11.2 Deletion syndrome: the neuropsychiatric phenotype (in a Portuguese clinical sample)EUROPEAN CHILD & ADOLESCENT PSYCHIATRY, 2015, 24 : S229 - S229Duarte Carvalho, A.论文数: 0 引用数: 0 h-index: 0机构: Oporto Med Ctr, Porto, Spain Oporto Med Ctr, Porto, SpainSoares, G.论文数: 0 引用数: 0 h-index: 0机构: Oporto Med Ctr, Porto, Spain Oporto Med Ctr, Porto, Spain
- [42] Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndromeCLEFT PALATE-CRANIOFACIAL JOURNAL, 2006, 43 (04): : 435 - 441Driscoll, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USABoland, Torrey论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USAEmanuel, Beverly S.论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USAKirschner, Richard E.论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USALaRossa, Don论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USAManson, Jeanne论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USAMcDonald-McGinn, Donna论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USARandall, Peter论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USASolot, Cynthia论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USAZackai, Elaine论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USAMitchell, Laura E.论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ Syst, Hlth Sci Ctr, Inst Biosci & Technol, Ctr Environm & Genet Med, Houston, TX 77030 USA
- [43] 22q11.2 deletion syndrome: IntroductionCHILD NEUROPSYCHOLOGY, 2005, 11 (01) : 1 - 3Lajiness-O'Neill, R论文数: 0 引用数: 0 h-index: 0机构: Henry Ford Hlth Syst, Dept Behav Hlth, Div Neuropsychol, Detroit, MI 48202 USA Henry Ford Hlth Syst, Dept Behav Hlth, Div Neuropsychol, Detroit, MI 48202 USA
- [44] Growth hormone deficiency in patients with a 22q11.2 deletion: Expanding the phenotypePEDIATRICS, 1998, 101 (05) : 929 - 932Weinzimer, SA论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAMcDonald-McGinn, DM论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Div Endocrinol & Diabet, Philadelphia, PA 19104 USADriscoll, DA论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAEmanuel, BS论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAZackai, EH论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAMoshang, T论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA
- [45] 22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical HeterogeneityGENES, 2024, 15 (04)de Wallau, Melissa Bittencourt论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilXavier, Ana Carolina论文数: 0 引用数: 0 h-index: 0机构: Centrinho Prefeito Luiz Gomes, BR-89203020 Joinville, SC, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilMoreno, Carolina Araujo论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Sao Paulo, Inst Crianca, FMUSP, BR-05403000 Sao Paulo, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilMendes, Elaine Lustosa论文数: 0 引用数: 0 h-index: 0机构: UFPR, Hosp Clin, Serv Genet, BR-80060900 Curitiba, Parana, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilRibeiro, Erlane Marques论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Albert Sabin HIAS, Serv Genet, BR-60410794 Fortaleza, Ceara, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilOliveira, Amanda论文数: 0 引用数: 0 h-index: 0机构: Ctr Atencao Aos Defeitos Face CADEFI, BR-50060293 Recife, PE, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilFelix, Temis Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre HCPA, Serv Genet Med, BR-90035903 Porto Alegre, RS, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilFett-Conte, Agnes Cristina论文数: 0 引用数: 0 h-index: 0机构: Fac Med Sao Jose do Rio Preto FAMERP FUNFARME, Serv Genet, BR-15090000 Sao Jose Do Rio Preto, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilBonadia, Luciana Cardoso论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilCorreia-Costa, Gabriela Roldao论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilMonlleo, Isabella Lopes论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Alagoas UFAL, Hosp Univ Prof Alberto Antunes HUPAA, Fac Med, Serv Genet Med, BR-57072900 Maceio, AL, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilGil-da-Silva-Lopes, Vera Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilVieira, Tarsis Paiva论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil
- [46] Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge SyndromesAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (03) : 439 - 447Delio, Maria论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Womens Hlth, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAGuo, Tingwei论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Womens Hlth, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAMcDonald-McGinn, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAZackai, Elaine论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAHerman, Sean论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Womens Hlth, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAKaminetzky, Mark论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Womens Hlth, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAHiggins, Anne Marie论文数: 0 引用数: 0 h-index: 0机构: Virtual Ctr Velocardiofacial Syndrome, Manlius, NY 13104 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAColeman, Karlene论文数: 0 引用数: 0 h-index: 0机构: Childrens Healthcare Atlanta, Atlanta, GA 30322 USA Emory Univ, Nell Hodgson Woodruff Sch Nursing, Atlanta, GA 30322 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAChow, Carolyn论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Dept Psychol, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAJarlbrzkowski, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Dept Psychol, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USABearden, Carrie E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Dept Psychol, Semel Inst Neurosci & Human Behav, Los Angeles, CA 90095 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USABailey, Alice论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAVangkilde, Anders论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Inst Biol Psychiat, Mental Hlth Ctr Sct Hans, DK-4000 Copenhagen, Denmark Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAOlsen, Line论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Inst Biol Psychiat, Mental Hlth Ctr Sct Hans, DK-4000 Copenhagen, Denmark Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAOlesen, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Dept Pediat, DK-8000 Aarhus, Denmark Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USASkovby, Flemming论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAWerge, Thomas M.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Inst Biol Psychiat, Mental Hlth Ctr Sct Hans, DK-4000 Copenhagen, Denmark Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USATemplin, Ludivine论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USA论文数: 引用数: h-index:机构:Philip, Nicole论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, Assistance Publ Hop Marseille, F-13005 Marseille, France Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USASwillen, Ann论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Univ Hosp Gasthuisberg, B-3000 Louvain, Belgium Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAVermeesch, Joris R.论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Univ Hosp Gasthuisberg, B-3000 Louvain, Belgium Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USADevriendt, Koen论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Univ Hosp Gasthuisberg, B-3000 Louvain, Belgium Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USASchneider, Maude论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Off Medicopedag Res Unit, Sch Med, CH-1211 Geneva, Switzerland Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USADahoun, Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Off Medicopedag Res Unit, Sch Med, CH-1211 Geneva, Switzerland Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USA论文数: 引用数: h-index:机构:Schoch, Kelly论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Div Med Genet, Dept Pediat, Med Ctr, Durham, NC 27705 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAHooper, Stephen R.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Psychiat, Chapel Hill, NC 27514 USA Univ N Carolina, Sch Med, Carolina Inst Dev Disabil, Chapel Hill, NC 27514 USA Duke Univ, Dept Psychiat & Behav Sci, Med Ctr, Durham, NC 27705 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAShashi, Vandana论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Div Med Genet, Dept Pediat, Med Ctr, Durham, NC 27705 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USASamanich, Joy论文数: 0 引用数: 0 h-index: 0机构: Montefiore Med Ctr, Dept Pediat, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAMarion, Robert论文数: 0 引用数: 0 h-index: 0机构: Montefiore Med Ctr, Dept Pediat, Bronx, NY 10461 USA Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAvan Amelsvoort, Therese论文数: 0 引用数: 0 h-index: 0机构: Univ Maastricht, Dept Psychiat & Psychol, NL-6211 Maastricht, Netherlands Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USABoot, Erik论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Psychiat, NL-1100 Amsterdam, Netherlands Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAKlaassen, Petra论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Pediat Psychol, NL-3584 Utrecht, Netherlands Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USADuijff, Sasja N.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Pediat Psychol, NL-3584 Utrecht, Netherlands Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAVorstman, Jacob论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Rudolf Magnus Inst Neurosci, Dept Psychiat, NL-3584 Utrecht, Netherlands Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAYuen, Tracy论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Ctr Addict & Mental Hlth, Toronto, ON M5T 1R8, Canada Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USASilversides, Candice论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Ctr Addict & Mental Hlth, Toronto, ON M5T 1R8, Canada Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAChow, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Ctr Addict & Mental Hlth, Toronto, ON M5T 1R8, Canada Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USABassett, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Ctr Addict & Mental Hlth, Toronto, ON M5T 1R8, Canada Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAFrisch, Amos论文数: 0 引用数: 0 h-index: 0机构: Felsenstein Med Res Ctr, IL-49100 Petah Tiqwa, Israel Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAWeizman, Abraham论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAGothelf, Doron论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, IL-52621 Tel Hashomer, Israel Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USANiarchou, Maria论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, MRC, Ctr Neuropsychiat Genet & Genom, Cardiff CF14 4XN, S Glam, Wales Cardiff Univ, Neurosci & Mental Hlth Res Inst, Cardiff CF14 4XN, S Glam, Wales Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USA论文数: 引用数: h-index:机构:Owen, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, MRC, Ctr Neuropsychiat Genet & Genom, Cardiff CF14 4XN, S Glam, Wales Cardiff Univ, Neurosci & Mental Hlth Res Inst, Cardiff CF14 4XN, S Glam, Wales Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAHeine Suner, Damian论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Son Espases, Mol Genet Lab, Dept Genet, Palma de Mallorca 07020, Spain Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USARosell Andreo, Jordi论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Son Espases, Mol Genet Lab, Dept Genet, Palma de Mallorca 07020, Spain Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAArmando, Marco论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Child Neuropsychiat Unit, Dept Neurosci, Ist Ricovero & Cura Carattere Sci, I-00165 Rome, Italy Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USAVicari, Stefano论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Child Neuropsychiat Unit, Dept Neurosci, Ist Ricovero & Cura Carattere Sci, I-00165 Rome, Italy Albert Einstein Coll Med, Dept Genet Pediat & Obstet & Gynecol, Bronx, NY 10461 USA
- [47] 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndromeEUROPEAN JOURNAL OF PEDIATRICS, 2011, 170 (11) : 1465 - 1470Cuturilo, Goran论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Clin Genet, Belgrade 11000, Serbia Univ Belgrade, Fac Med, Belgrade, Serbia Univ Childrens Hosp, Dept Clin Genet, Belgrade 11000, SerbiaMenten, Bjorn论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Univ Childrens Hosp, Dept Clin Genet, Belgrade 11000, SerbiaKrstic, Aleksandar论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Inst Mol Genet & Genet Engn, Belgrade 11010, Serbia Univ Childrens Hosp, Dept Clin Genet, Belgrade 11000, SerbiaDrakulic, Danijela论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Inst Mol Genet & Genet Engn, Belgrade 11010, Serbia Univ Childrens Hosp, Dept Clin Genet, Belgrade 11000, SerbiaJovanovic, Ida论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Belgrade, Serbia Univ Childrens Hosp, Dept Cardiol, Belgrade 11000, Serbia Univ Childrens Hosp, Dept Clin Genet, Belgrade 11000, SerbiaParezanovic, Vojislav论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Belgrade, Serbia Univ Childrens Hosp, Dept Cardiol, Belgrade 11000, Serbia Univ Childrens Hosp, Dept Clin Genet, Belgrade 11000, SerbiaStevanovic, Milena论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Inst Mol Genet & Genet Engn, Belgrade 11010, Serbia Univ Childrens Hosp, Dept Clin Genet, Belgrade 11000, Serbia
- [48] Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case ReportAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (01) : 215 - 220Molck, Miriam Coelho论文数: 0 引用数: 0 h-index: 0机构: Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, Brazil Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, BrazilVieira, Tarsis Paiva论文数: 0 引用数: 0 h-index: 0机构: Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, Brazil Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, BrazilSimioni, Milena论文数: 0 引用数: 0 h-index: 0机构: Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, Brazil Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, BrazilSgardioli, Ilaria Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, Brazil Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, Brazildos Santos, Ana Paula论文数: 0 引用数: 0 h-index: 0机构: Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, Brazil Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, BrazilXavier, Ana Carolina论文数: 0 引用数: 0 h-index: 0机构: Ctr Res & Rehabil Lip & Palate Lesions CRRLPL Cen, Joinville, SC, Brazil Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, BrazilGil-da-Silva-Lopes, Vera Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, Brazil Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo, Brazil
- [49] Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromesAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (11) : 2963 - 2968Fernandez, Luis论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainNevado, Julian论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainDe Torres, Maria L.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainMansilla, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainVallespin, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainGarcia-Minaur, Sixto论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainPalomo, Rebeca论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainDeiros, Lucia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Serv Cardiol Infantil, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainCabrera, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Serv Neonatol, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainDina Galo, Elia论文数: 0 引用数: 0 h-index: 0机构: Univ Nacl Autonoma Nicaragua, Leon, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainLapunzina, Pablo论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, SpainDelicado, Alicia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain
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