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- [32] Association of the Downstream Region of the ENPP1 Gene with Type 2 Diabetes Risk in Afro-Caribbean Men from TobagoDIABETES, 2009, 58 : A302 - A302Leak, Tennille S.论文数: 0 引用数: 0 h-index: 0Miljkovic, Iva论文数: 0 引用数: 0 h-index: 0Patrick, Alan L.论文数: 0 引用数: 0 h-index: 0Wheeler, Victor W.论文数: 0 引用数: 0 h-index: 0Bunker, Clareann论文数: 0 引用数: 0 h-index: 0Nestlerode, Cara S.论文数: 0 引用数: 0 h-index: 0Zmuda, Joseph M.论文数: 0 引用数: 0 h-index: 0
- [33] MULTIPLE-SCLEROSIS, TROPICAL SPASTIC PARAPARESIS AND HTLV-1 INFECTION IN AFRO-CARIBBEAN PATIENTS IN THE UNITED-KINGDOMJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1991, 54 (08): : 689 - 694RUDGE, P论文数: 0 引用数: 0 h-index: 0机构: NORTHWICK PK HOSP & CLIN RES CTR, CTR CLIN RES, HARROW HA1 3UJ, MIDDX, ENGLAND NORTHWICK PK HOSP & CLIN RES CTR, CTR CLIN RES, HARROW HA1 3UJ, MIDDX, ENGLANDALI, A论文数: 0 引用数: 0 h-index: 0机构: NORTHWICK PK HOSP & CLIN RES CTR, CTR CLIN RES, HARROW HA1 3UJ, MIDDX, ENGLAND NORTHWICK PK HOSP & CLIN RES CTR, CTR CLIN RES, HARROW HA1 3UJ, MIDDX, ENGLANDCRUICKSHANK, JK论文数: 0 引用数: 0 h-index: 0机构: NORTHWICK PK HOSP & CLIN RES CTR, CTR CLIN RES, HARROW HA1 3UJ, MIDDX, ENGLAND NORTHWICK PK HOSP & CLIN RES CTR, CTR CLIN RES, HARROW HA1 3UJ, MIDDX, ENGLAND
- [34] Incessant ventricular arrhythmia caused by an apparent de novo pathogenic variant in Kir2.1 channelACTA CARDIOLOGICA, 2018, 73 (05) : 489 - 490Scavee, C.论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Brussels, Belgium Clin Univ St Luc, Brussels, BelgiumSznajer, Y.论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Brussels, Belgium Clin Univ St Luc, Brussels, BelgiumMarchandise, S.论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Brussels, Belgium Clin Univ St Luc, Brussels, BelgiumCorveleyn, A.论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, UZ Leuven, Mol Geneticist, Leuven, Belgium Clin Univ St Luc, Brussels, Belgiumvan Esch, H.论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, UZ Leuven, Mol Geneticist, Leuven, Belgium Clin Univ St Luc, Brussels, Belgiumde Waroux, J. -B. le Polain论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Brussels, Belgium Clin Univ St Luc, Brussels, Belgium
- [35] A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemiaFRONTIERS IN PEDIATRICS, 2024, 12Cai, Jianling论文数: 0 引用数: 0 h-index: 0机构: Shantou Univ, Dept Pediat, Affiliated Hosp 1, Med Coll, Shantou, Guangdong, Peoples R China Shantou Univ, Dept Pediat, Affiliated Hosp 1, Med Coll, Shantou, Guangdong, Peoples R ChinaLiu, Tianming论文数: 0 引用数: 0 h-index: 0机构: Shantou Univ, Dept Lab Med, Affiliated Hosp 1, Med Coll, Shantou, Guangdong, Peoples R China Shantou Univ, Dept Pediat, Affiliated Hosp 1, Med Coll, Shantou, Guangdong, Peoples R ChinaHuang, Yuxuan论文数: 0 引用数: 0 h-index: 0机构: Shantou Univ, Dept Clin Med, Med Coll, Shantou, Guangdong, Peoples R China Shantou Univ, Dept Pediat, Affiliated Hosp 1, Med Coll, Shantou, Guangdong, Peoples R ChinaChen, Hongxing论文数: 0 引用数: 0 h-index: 0机构: Shantou Univ, Dept Clin Med, Med Coll, Shantou, Guangdong, Peoples R China Shantou Univ, Dept Pediat, Affiliated Hosp 1, Med Coll, Shantou, Guangdong, Peoples R ChinaYu, Meidie论文数: 0 引用数: 0 h-index: 0机构: Shantou Univ, Dept Clin Med, Med Coll, Shantou, Guangdong, Peoples R China Shantou Univ, Dept Pediat, Affiliated Hosp 1, Med Coll, Shantou, Guangdong, Peoples R ChinaZhang, Dongqing论文数: 0 引用数: 0 h-index: 0机构: Shantou Univ, Dept Lab Med, Affiliated Hosp 1, Med Coll, Shantou, Guangdong, Peoples R China Shantou Univ, Dept Pediat, Affiliated Hosp 1, Med Coll, Shantou, Guangdong, Peoples R ChinaHuang, Zhanqin论文数: 0 引用数: 0 h-index: 0机构: Shantou Univ, Med Coll, Dept Pharmacol, Shantou, Guangdong, Peoples R China Shantou Univ, Dept Pediat, Affiliated Hosp 1, Med Coll, Shantou, Guangdong, Peoples R China
- [36] De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaPLOS ONE, 2016, 11 (03):Strom, Samuel P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USAClark, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Personalis Inc, Menlo Pk, CA USA Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USAMartinez, Ariadna论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Cardiol, Los Angeles, CA 90048 USA Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USAGarcia, Sarah论文数: 0 引用数: 0 h-index: 0机构: Personalis Inc, Menlo Pk, CA USA Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USAAbelazeem, Amira A.论文数: 0 引用数: 0 h-index: 0机构: Res Inst Ophthalmol, Cairo, Egypt Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USAMatynia, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Jules Stein Eye Inst, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Dept Ophthalmol, Los Angeles, CA USA Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USAParikh, Sachin论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Jules Stein Eye Inst, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Dept Ophthalmol, Los Angeles, CA USA Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USASullivan, Lori S.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USABowne, Sara J.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USADaiger, Stephen P.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USAGorin, Michael B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Jules Stein Eye Inst, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Dept Ophthalmol, Los Angeles, CA USA Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USA
- [37] A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case reportBMC MEDICAL GENETICS, 2020, 21 (01)Jacob, Arthur论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, France Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, FrancePasquier, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Qatar Fdn, Stem Cell & Microenvironm Lab, Weill Cornell Med Qatar, Educ City, Doha, Qatar Sorbonne Univ, INSERM, CNRS,Inst Univ Cancerol, UMR S 938,Ctr Rech St Antoine,Team Canc Biol & Th, F-75012 Paris, France Nice Breast Inst, 57 Bld Californie, F-06000 Nice, France Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, France论文数: 引用数: h-index:机构:Aurade, Frederic论文数: 0 引用数: 0 h-index: 0机构: UPEC Univ Paris Est, INSERM IMRB U955 E10, Fac Med, F-94000 Creteil, France Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, France论文数: 引用数: h-index:机构:Froguel, Philippe论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, France Imperial Coll, Dept Genom Common Dis, Sch Publ Hlth, South Kensington Campus, London SW7 2AZ, England Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, FranceFakhro, Khalid论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Qatar, Epigenet Cardiovasc Lab, Dept Med Genet, Doha, Qatar Sidra Med & Res Ctr, Dept Human Genet, Doha, Qatar Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, FranceHalabi, Najeeb论文数: 0 引用数: 0 h-index: 0机构: Qatar Fdn, Stem Cell & Microenvironm Lab, Weill Cornell Med Coll Qatar, Educ City, Doha, Qatar Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, FranceViot, Geraldine论文数: 0 引用数: 0 h-index: 0机构: Hop Cochin, Assistance Publ Hop Paris, HUPC, Gynecol Obstet, Paris, France Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, FranceBahram, Seiamak论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, LabEx TRAN SPLANTEX, Lab ImmunoRhumatol Mol,FMTS, Plateforme GENOMAX,INSERM UMR S 1109,Fac Med,Fede, 4 Rue Kirschleger, F-67085 Strasbourg, France Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, FranceRafii, Arash论文数: 0 引用数: 0 h-index: 0机构: Qatar Fdn, Stem Cell & Microenvironm Lab, Weill Cornell Med Coll Qatar, Educ City, Doha, Qatar Weill Cornell Med Coll, Dept Genet Med, New York, NY 10065 USA Univ Lille, CNRS, CHU Lille, Inst Pasteur Lille,UMR 8199 EGID, F-59000 Lille, France
- [38] De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasiaBRITISH JOURNAL OF HAEMATOLOGY, 2022, 199 (05) : 739 - 743Vial, Yoann论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, France Univ Paris Cite, INSERM UMR 1141, NeuroDiderot, Paris, France Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, FranceLainey, Elodie论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Assistance Publ Hop Paris AP HP, Lab Immunohematol, Paris, France Univ Paris Cite, INSERM UMR S1131, Inst Rech St Louis, Paris, France Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, FranceLeblanc, Thierry论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Immunohematol, Paris, France Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, FranceBaudouin, Veronique论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Nephrol Pediat, Paris, France Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, FranceDourthe, Marie Emilie论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Immunohematol, Paris, France Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, FranceGressens, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, INSERM UMR 1141, NeuroDiderot, Paris, France Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, FranceVerloes, Alain论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, France Univ Paris Cite, INSERM UMR 1141, NeuroDiderot, Paris, France Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, FranceCave, Helene论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, France Univ Paris Cite, INSERM UMR S1131, Inst Rech St Louis, Paris, France Hop Robert Debre, Assistance Publ Hop Paris AP HP, Dept Genet, F-75019 Paris, France论文数: 引用数: h-index:机构:
- [39] A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delayHUMAN GENETICS AND GENOMICS ADVANCES, 2022, 3 (01):Cintron, Dianne Laboy论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAMuir, Alison M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAScott, Abbey论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Div Genet Med, Seattle, WA 98105 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAMcDonald, Marie论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Durham, NC 27706 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAMonaghan, Kristin G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, 207 Perry Pkwy, Gaithersburg, MD USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USASantiago-Sim, Teresa论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, 207 Perry Pkwy, Gaithersburg, MD USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAWentzensen, Ingrid M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, 207 Perry Pkwy, Gaithersburg, MD USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA论文数: 引用数: h-index:机构:Brancati, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ LAquila, Dept Life Hlth & Environm Sci, I-67100 Laquila, Italy IRCCS San Raffaele Roma, I-00163 Rome, Italy Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAHarris, David J.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAGoueli, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Dept Pediat, Cincinnati, OH USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAStottmann, Rolf论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAPrada, Carlos E.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Dept Pediat, Cincinnati, OH USA Ann & Robert H Lurie Childrens Hosp Chicago, Div Genet Birth Defects & Metab, Chicago, IL 60611 USA Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAWaberski, Marta Biderman论文数: 0 引用数: 0 h-index: 0机构: Virginia Commonwealth Univ, Dept Pediat, Fairfax, VA USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Seattle Childrens Hosp, Div Genet Med, Seattle, WA 98105 USA St Jude Childrens Res Hosp, Ctr Pediat Neurol Dis Res, Memphis, TN USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA
- [40] A de novo variant in the ASPRV1 gene in a dog with ichthyosisPLOS GENETICS, 2017, 13 (03):论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Galichet, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, DermFocus, Bern, Switzerland Univ Bern, Dept Clin Res Mol Dermatol & Stem Cell Res, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, Bern, SwitzerlandTimm, Katrin论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, DermFocus, Bern, Switzerland Dermavet, Oberentfelden, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, Bern, SwitzerlandJagannathan, Vidhya论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Vetsuisse Fac, Inst Genet, Bern, Switzerland Univ Bern, DermFocus, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, Bern, SwitzerlandSayar, Beyza S.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, DermFocus, Bern, Switzerland Univ Bern, Dept Clin Res Mol Dermatol & Stem Cell Res, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, Bern, SwitzerlandWiener, Dominique J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, DermFocus, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Anim Pathol, Bern, Switzerland Hubrecht Inst, Utrecht, Netherlands Univ Bern, Vetsuisse Fac, Inst Genet, Bern, SwitzerlandDietschi, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Vetsuisse Fac, Inst Genet, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, Bern, SwitzerlandMueller, Eliane J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, DermFocus, Bern, Switzerland Univ Bern, Dept Clin Res Mol Dermatol & Stem Cell Res, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Anim Pathol, Bern, Switzerland Univ Hosp Bern, Inselspital, Dermatol Clin, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, Bern, SwitzerlandRoosje, Petra论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, DermFocus, Bern, Switzerland Univ Bern, Vetsuisse Fac, Div Clin Dermatol, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, Bern, SwitzerlandWelle, Monika M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, DermFocus, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Anim Pathol, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, Bern, SwitzerlandLeeb, Tosso论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Vetsuisse Fac, Inst Genet, Bern, Switzerland Univ Bern, DermFocus, Bern, Switzerland Univ Bern, Vetsuisse Fac, Inst Genet, Bern, Switzerland