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Refinado por: Nome da Publicação: American Journal Of Medical Genetics. Part A remover
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1
A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis
A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis
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A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

Girisha, Katta M. ; Abdollahpour, Hengameh ; Shah, Hitesh ; Bhavani, Gandham SriLakshmi ; Graham Jr, John M. ; Boggula, Vijay Raju ; Phadke, Shubha R. ; Kutsche, Kerstin

American journal of medical genetics. Part A, 2014-04, Vol.164A (4), p.1035-1040 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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2
Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers
Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers
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Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

Wieczorek, Dagmar ; Bartsch, Oliver ; Lechno, Stanislav ; Kohlhase, Jürgen ; Peters, Dorien J.M. ; Dauwerse, Hans ; Gillessen‐Kaesbach, Gabriele ; Hennekam, Raoul C.M. ; Passarge, Eberhard

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2849-2854 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly
A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly
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A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly

Parmar, Ramesh C. ; Muranjan, Mamta N.

American journal of medical genetics, 2004-01, Vol.124A (2), p.200-201 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy
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A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy

Mendelsohn, Bryce A. ; Beleford, Daniah T. ; Abu‐El‐Haija, Aya ; Alsaleh, Norah S. ; Rahbeeni, Zuhair ; Martin, Pierre‐Marie ; Rego, Shannon ; Huang, Alyssa ; Capodanno, Gina ; Shieh, Joseph T. ; Van Ziffle, Jessica ; Risch, Neil ; Alkuraya, Fowzan S. ; Slavotinek, Anne M.

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.513-520 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism
Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism
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Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism

Corder, Megan L. ; Berland, Siren ; Førsvoll, Jostein A. ; Banerjee, Indraneel ; Murray, Phil ; Bratland, Eirik ; Gokhale, David ; Houge, Gunnar ; Douzgou, Sofia

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1065-1074 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder
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Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder

Tessarech, Marine ; Gorce, Magali ; Boussion, Françoise ; Bault, Jean‐Philippe ; Triau, Stéphane ; Charif, Majida ; Khiaty, Salim ; Delorme, Benoit ; Guichet, Agnès ; Ziegler, Alban ; Bris, Céline ; Laquerrière, Annie ; Fallet‐Bianco, Catherine ; Jacquette, Aurélia ; Salhi, Houria ; Héron, Delphine ; Reynier, Pascal ; Procaccio, Vincent ; Bonneau, Dominique ; Colin, Estelle

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.565-569 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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7
Basan gets a new fingerprint: Mutations in the skin‐specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia
Basan gets a new fingerprint: Mutations in the skin‐specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia
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Basan gets a new fingerprint: Mutations in the skin‐specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia

Valentin, Monica N. ; Solomon, Benjamin D. ; Richard, Gabriele ; Ferreira, Carlos R. ; Kirkorian, Anna Yasmine

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2451-2455 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants

Sewani, Soha ; Azamian, Mahshid S. ; Mendelsohn, Bryce A. ; Mau‐Them, Frederic Tran ; Réda, Manon ; Nambot, Sophie ; Isidor, Bertrand ; Smagt, Jasper J. ; Shen, Joseph J. ; Shillington, Amelle ; White, Lori ; Elloumi, Houda Zghal ; Baker, Peter R. ; Svihovec, Shayna ; Brown, Kathleen ; Koopman‐Keemink, Yvonne ; Hoffer, Mariette J. V. ; Lakeman, Inge M. M. ; Brischoux‐Boucher, Elise ; Kinali, Maria ; Zhao, Xiaonan ; Lalani, Seema R. ; Scott, Daryl A.

American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63445-n/a [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

Benke, Paul J. ; Emrick, Lisa ; Fisher, Kristen ; Adam, Margaret ; Alvarez, Raquel L. ; Alvey, Justin ; Ashley, Euan A. ; Bacino, Carlos A. ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Beggs, Alan H. ; Bejerano, Gill ; Bennett, Jimmy ; Bernstein, Jonathan A. ; Blue, Elizabeth ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Byers, Peter ; Carey, John ; Cassini, Thomas ; Chang, Ta Chen Peter ; Coakley, Terra R. ; Cobban, Laurel A. ; Cole, F. Sessions ; Colley, Heather A. ; Corona, Rosario ; Crouse, Andrew B. ; Dai, Hongzheng ; Davis, Joie ; Dell'Angelica, Esteban C. ; Dickson, Patricia ; Douine, Emilie D. ; Eckstein, David J. ; Emrick, Lisa T. ; Hadley, Don ; Hamid, Rizwan ; Hassey, Kelly ; Hayes, Nichole ; Horike‐Pyne, Martha ; Huang, Alden ; Isasi, Rosario ; Izumi, Kosuke ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Jean‐Marie, Orpa ; Jobanputra, Vaidehi ; Karaviti, Lefkothea ; Korrick, Susan ; Krasnewich, Donna M. ; Lam, Byron ; Lam, Christina ; Lanpher, Brendan C. ; Liu, Pengfei ; Longo, Nicola ; Loscalzo, Joseph ; Maas, Richard L. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Maghiro, Audrey Stephannie ; Manolio, Teri A. ; Marwaha, Shruti ; McConkie‐Rosell, Allyn ; Mirzaa, Ghayda ; Morava, Eva ; Nicholas, Sarah K. ; Nickerson, Deborah ; Pallais, J. Carl ; Phillips, John A. ; Raskind, Wendy ; Rosenfeld, Jill A. ; Rosenwasser, Natalie ; Sampson, Jacinda B. ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Solnica‐Krezel, Lilianna ; Solomon, Ben ; Sullivan, Kathleen ; Sweetser, David A. ; Tan, Amelia L. M. ; Tarakad, Arjun ; Vanderver, Adeline ; Velinder, Matt ; Walley, Nicole M. ; Wambach, Jennifer ; Ward, Patricia A. ; Hubshman, Monika Weisz ; Yamamoto, Shinya ; Zhang, Zhe ; Zuchner, Stephan ; Glaser, Kimberly ; Murdock, David R. ; Rohena, Luis ; Diderich, Karin E. M. ; Lee, Brendan

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.17-30 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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10
A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies
A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies
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A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies

Crapster, J. Aaron ; Hudgins, Louanne ; Chen, James K. ; Gomez‐Ospina, Natalia

American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.3221-3225 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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