Etiology
Monteiro A,
Cortez GM,
Granja MF,
Agnoletto GJ,
Kranich J,
Padilha MVR,
Aldana P,
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J Neurointerv Surg
2021 Feb;13(2):171-176.
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Bober MB,
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Curr Osteoporos Rep
2017 Apr;15(2):61-69.
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Am J Med Genet A
2016 Aug;170(8):2127-32.
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de Munnik SA,
Otten BJ,
Schoots J,
Bicknell LS,
Aftimos S,
Al-Aama JY,
van Bever Y,
Bober MB,
Borm GF,
Clayton-Smith J,
Deal CL,
Edrees AY,
Feingold M,
Fryer A,
van Hagen JM,
Hennekam RC,
Jansweijer MC,
Johnson D,
Kant SG,
Opitz JM,
Ramadevi AR,
Reardon W,
Ross A,
Sarda P,
Schrander-Stumpel CT,
Sluiter AE,
Temple IK,
Terhal PA,
Toutain A,
Wise CA,
Wright M,
Skidmore DL,
Samuels ME,
Hoefsloot LH,
Knoers NV,
Brunner HG,
Jackson AP,
Bongers EM
Am J Med Genet A
2012 Nov;158A(11):2733-42.
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Klingseisen A,
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Genes Dev
2011 Oct 1;25(19):2011-24.
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Diagnosis
Ferreira CR,
Niiler T,
Duker AL,
Jackson AP,
Bober MB
Am J Med Genet A
2020 Sep;182(9):2110-2116.
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Ewida N,
Alsahli S,
Abdel-Salam GMH,
Zaki MS,
Tala SA,
Alhashem A,
Softah A,
Al-Owain M,
Alazami AM,
Abadel B,
Patel N,
Al-Sheddi T,
Alomar R,
Alobeid E,
Ibrahim N,
Hashem M,
Abdulwahab F,
Hamad M,
Tabarki B,
Alwadei AH,
Alhazzani F,
Bashiri FA,
Kentab A,
Şahintürk S,
Sherr E,
Fregeau B,
Sogati S,
Alshahwan SAM,
Alkhalifi S,
Alhumaidi Z,
Temtamy S,
Aglan M,
Otaify G,
Girisha KM,
Tulbah M,
Seidahmed MZ,
Salih MA,
Abouelhoda M,
Momin AA,
Saffar MA,
Partlow JN,
Arold ST,
Faqeih E,
Walsh C,
Alkuraya FS
Genet Med
2019 Mar;21(3):545-552.
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Bober MB,
Jackson AP
Curr Osteoporos Rep
2017 Apr;15(2):61-69.
doi: 10.1007/s11914-017-0348-1.
PMID: 28409412Free PMC Article
Nair P,
Hamzeh AR,
Mohamed M,
Saif F,
Tawfiq N,
El Halik M,
Al-Ali MT,
Bastaki F
Am J Med Genet A
2016 Aug;170(8):2127-32.
Epub 2016 May 27
doi: 10.1002/ajmg.a.37766.
PMID: 27232581
de Munnik SA,
Otten BJ,
Schoots J,
Bicknell LS,
Aftimos S,
Al-Aama JY,
van Bever Y,
Bober MB,
Borm GF,
Clayton-Smith J,
Deal CL,
Edrees AY,
Feingold M,
Fryer A,
van Hagen JM,
Hennekam RC,
Jansweijer MC,
Johnson D,
Kant SG,
Opitz JM,
Ramadevi AR,
Reardon W,
Ross A,
Sarda P,
Schrander-Stumpel CT,
Sluiter AE,
Temple IK,
Terhal PA,
Toutain A,
Wise CA,
Wright M,
Skidmore DL,
Samuels ME,
Hoefsloot LH,
Knoers NV,
Brunner HG,
Jackson AP,
Bongers EM
Am J Med Genet A
2012 Nov;158A(11):2733-42.
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Therapy
Stiff T,
Casar Tena T,
O'Driscoll M,
Jeggo PA,
Philipp M
Hum Mol Genet
2016 Apr 15;25(8):1574-87.
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de Munnik SA,
Otten BJ,
Schoots J,
Bicknell LS,
Aftimos S,
Al-Aama JY,
van Bever Y,
Bober MB,
Borm GF,
Clayton-Smith J,
Deal CL,
Edrees AY,
Feingold M,
Fryer A,
van Hagen JM,
Hennekam RC,
Jansweijer MC,
Johnson D,
Kant SG,
Opitz JM,
Ramadevi AR,
Reardon W,
Ross A,
Sarda P,
Schrander-Stumpel CT,
Sluiter AE,
Temple IK,
Terhal PA,
Toutain A,
Wise CA,
Wright M,
Skidmore DL,
Samuels ME,
Hoefsloot LH,
Knoers NV,
Brunner HG,
Jackson AP,
Bongers EM
Am J Med Genet A
2012 Nov;158A(11):2733-42.
Epub 2012 Sep 28
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PMID: 23023959
Bober MB,
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Duker AL,
Murray JE,
Ketterer T,
Harley ME,
Alvi S,
Flora C,
Rustad C,
Bongers EM,
Bicknell LS,
Wise C,
Jackson AP
Am J Med Genet A
2012 Nov;158A(11):2719-25.
Epub 2012 Jul 20
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Prognosis
Chen WJ,
Huang FC,
Shih MH
BMC Pediatr
2019 Sep 11;19(1):329.
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Tarnauskaitė Ž,
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Murray JE,
Parry DA,
Logan CV,
Bober MB,
de Silva DC,
Duker AL,
Sillence D,
Wise C,
Jackson AP,
Murina O,
Reijns MAM
Hum Mutat
2019 Aug;40(8):1063-1070.
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Clinical prediction guides
Cuinat S,
Quélin C,
Pasquier L,
Loget P,
Aussel D,
Odent S,
Laquerrière A,
Proisy M,
Mazoyer S,
Delous M,
Edery P,
Chatron N,
Lesca G,
Putoux A
Eur J Med Genet
2023 Nov;66(11):104852.
Epub 2023 Sep 25
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PMID: 37758168
Yu KW,
She ZY,
Wei YL,
Zhong N
Eur J Cell Biol
2020 Aug;99(6):151107.
Epub 2020 Jul 11
doi: 10.1016/j.ejcb.2020.151107.
PMID: 32800279
Karaca E,
Posey JE,
Bostwick B,
Liu P,
Gezdirici A,
Yesil G,
Coban Akdemir Z,
Bayram Y,
Harms FL,
Meinecke P,
Alawi M,
Bacino CA,
Sutton VR,
Kortüm F,
Lupski JR
Am J Med Genet A
2019 Oct;179(10):2056-2066.
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PMID: 31407851Free PMC Article
Tarnauskaitė Ž,
Bicknell LS,
Marsh JA,
Murray JE,
Parry DA,
Logan CV,
Bober MB,
de Silva DC,
Duker AL,
Sillence D,
Wise C,
Jackson AP,
Murina O,
Reijns MAM
Hum Mutat
2019 Aug;40(8):1063-1070.
Epub 2019 Jun 23
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PMID: 31045292Free PMC Article
Murray JE,
van der Burg M,
IJspeert H,
Carroll P,
Wu Q,
Ochi T,
Leitch A,
Miller ES,
Kysela B,
Jawad A,
Bottani A,
Brancati F,
Cappa M,
Cormier-Daire V,
Deshpande C,
Faqeih EA,
Graham GE,
Ranza E,
Blundell TL,
Jackson AP,
Stewart GS,
Bicknell LS
Am J Hum Genet
2015 Mar 5;96(3):412-24.
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